Arthrogryposis - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

ARTHROGRYPOSIS A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES J AME...

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ARTHROGRYPOSIS A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright 2004 by ICON Group International, Inc. Copyright 2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Arthrogryposis: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-497-00093-8 1. Arthrogryposis-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International, Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on arthrogryposis. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON ARTHROGRYPOSIS ..................................................................................... 3 Overview........................................................................................................................................ 3 Federally Funded Research on Arthrogryposis .............................................................................. 3 E-Journals: PubMed Central ......................................................................................................... 4 The National Library of Medicine: PubMed .................................................................................. 5 CHAPTER 2. ALTERNATIVE MEDICINE AND ARTHROGRYPOSIS..................................................... 49 Overview...................................................................................................................................... 49 National Center for Complementary and Alternative Medicine.................................................. 49 Additional Web Resources ........................................................................................................... 50 General References ....................................................................................................................... 51 CHAPTER 3. DISSERTATIONS ON ARTHROGRYPOSIS ...................................................................... 53 Overview...................................................................................................................................... 53 Dissertations on Arthrogryposis.................................................................................................. 53 Keeping Current .......................................................................................................................... 53 CHAPTER 4. BOOKS ON ARTHROGRYPOSIS ..................................................................................... 55 Overview...................................................................................................................................... 55 Chapters on Arthrogryposis......................................................................................................... 55 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 59 Overview...................................................................................................................................... 59 NIH Guidelines............................................................................................................................ 59 NIH Databases............................................................................................................................. 61 Other Commercial Databases....................................................................................................... 63 The Genome Project and Arthrogryposis..................................................................................... 63 APPENDIX B. PATIENT RESOURCES ................................................................................................. 67 Overview...................................................................................................................................... 67 Patient Guideline Sources............................................................................................................ 67 Associations and Arthrogryposis ................................................................................................. 69 Finding Associations.................................................................................................................... 69 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 71 Overview...................................................................................................................................... 71 Preparation................................................................................................................................... 71 Finding a Local Medical Library.................................................................................................. 71 Medical Libraries in the U.S. and Canada ................................................................................... 71 ONLINE GLOSSARIES.................................................................................................................. 77 Online Dictionary Directories ..................................................................................................... 77 ARTHROGRYPOSIS DICTIONARY .......................................................................................... 79 INDEX .............................................................................................................................................. 105

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with arthrogryposis is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about arthrogryposis, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to arthrogryposis, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on arthrogryposis. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to arthrogryposis, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on arthrogryposis. The Editors

1

From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON ARTHROGRYPOSIS Overview In this chapter, we will show you how to locate peer-reviewed references and studies on arthrogryposis.

Federally Funded Research on Arthrogryposis The U.S. Government supports a variety of research studies relating to arthrogryposis. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to arthrogryposis. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore arthrogryposis. The following is typical of the type of information found when searching the CRISP database for arthrogryposis: •

Project Title: CEREBELLAR ARTHROGRYPOSIS IN DOGS

HYPOPLASIA,

FETAL

AKINESIS,

&

Principal Investigator & Institution: Patterson, Donald F.; Professor; University of Pennsylvania 3451 Walnut Street Philadelphia, Pa 19104 Timing: Fiscal Year 2002 Summary: SUBPROJECT ABSTRACT NOT AVAILABLE 2 Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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Arthrogryposis

Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GENETIC CRANIOFACIAL/L

AND

ENVIRONMENTAL

DETERMINANTS

OF

Principal Investigator & Institution: Lee, Brendan; Associate Professor; Molecular and Human Genetics; Baylor College of Medicine 1 Baylor Plaza Houston, Tx 77030 Timing: Fiscal Year 2003; Project Start 15-JUL-2001; Project End 31-MAY-2006 Summary: (provided by applicant): In Project 2 of the current Program Project, the investigators have previously proposed to identify and characterize the underlying molecular defect in two multiple malformation syndromes leading to stillbirth or perinatal lethality: Meckel Syndrome and Hydrolethalus. These conditions are characterized by craniofacial/limb abnormalities, brain and cardiac defects, and dysplasia of parenchymal organs. Since these two severe malformation syndromes share several hallmark symptoms, it is probable that the molecular defect in them will guide us to partially interacting metabolic/developmental pathways. By combining genomewide mapping, cybercloning, comparative human/mouse mapping studies in collaboration with Dr. Monica Justice in Project 3, and direct mutation analysis, the investigators proposed to identify the specific gene defects. Then by combining functional genomic studies of Drosophila and mouse models with tissue array studies, they will dissect the underlying developmental pathway. Because progress on these fronts has been so rapid with the identification of the genes for both conditions and with functional studies well in progress, the researchers propose to expand on the application of their unique resource of the Finnish population and Birth Defects Registry. In this supplemental application, they propose to study a third early malformation syndrome: LCCS. This syndrome adds to the spectrum of developmental defects under study since it has additional pathonogmonic features including anterior horn motor neuron degeneration. It serves as a model for severe forms of neurogenic arthrogryposis. The analogous experimental approaches as proposed in the current project with Meckel syndrome and Hydrolethalus will be applied. Together, these studies should identify central developmental pathways that when dysregulated by genetic mutation will cause birth defects affecting the craniofacies, limb, brain, and spinal cord. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “arthrogryposis” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for arthrogryposis in the PubMed Central database: 3 4

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print.

Studies

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Acetylcholine receptor [delta] subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. by Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D.; 2001 Jul 1; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=209343

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with arthrogryposis, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “arthrogryposis” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for arthrogryposis (hyperlinks lead to article summaries): •

A cognitively normal boy with meningoencephalocele, arthrogryposis and hypoplastic thumbs. Author(s): Podder S, Shepherd RC, Shillito P, Tolmie JL. Source: Clinical Dysmorphology. 1995 January; 4(1): 70-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7735508

•

A dynamic elbow flexion splint for an infant with arthrogryposis. Author(s): Kamil NI, Correia AM. Source: Am J Occup Ther. 1990 May; 44(5): 460-1. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2353716

•

A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. Author(s): Lobefalo LT, Mancini AT, Petitti MT, Verrotti AE, Della Loggia GE, Di Muzio AE, Chiarelli FE, Gallenga PE. Source: Ophthalmic Genetics. 1999 December; 20(4): 233-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10617921

6 PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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Arthrogryposis

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A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. Author(s): Becker K, Splitt M. Source: Clinical Dysmorphology. 2001 January; 10(1): 41-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11152147

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A family with severe X-linked arthrogryposis. Author(s): Hennekam RC, Barth PG, Van Lookeren Campagne W, De Visser M, Dingemans KP. Source: European Journal of Pediatrics. 1991 July; 150(9): 656-60. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1915520

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A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. Author(s): Kobayashi H, Baumbach L, Matise TC, Schiavi A, Greenberg F, Hoffman EP. Source: Human Molecular Genetics. 1995 July; 4(7): 1213-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8528211

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A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter. Author(s): Shohat M, Lotan R, Magal N, Shohat T, Fischel-Ghodsian N, Rotter JI, Jaber L. Source: American Journal of Human Genetics. 1997 November; 61(5): 1139-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9345093

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A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. Author(s): Bamshad M, Watkins WS, Zenger RK, Bohnsack JF, Carey JC, Otterud B, Krakowiak PA, Robertson M, Jorde LB. Source: American Journal of Human Genetics. 1994 December; 55(6): 1153-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7977374

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A hydropic fetus with translucent ribs, arthrogryposis multiplex congenita and congenital myopathy: etiological heterogeneity of A.M.C., Toriello-Bauserman type? Author(s): Verloes A, Dodinval P, Retz MC, Schaaps JP, Koulischer L. Source: Genet Couns. 1991; 2(1): 63-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1741979

•

A new form of autosomal dominant arthrogryposis. Author(s): Lai MM, Tettenborn MA, Hall JG, Smith LJ, Berry AC. Source: Journal of Medical Genetics. 1991 October; 28(10): 701-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1941966

Studies

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A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex. Author(s): Al-Gazali LI, Bakir M, Hamid ZM, Nair DK, Haas D, Amirlak I, Rushdi A. Source: Clinical Dysmorphology. 2000 July; 9(3): 183-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10955478

•

A retrospective study of pregnancy complications among 828 cases of arthrogryposis. Author(s): Fahy MJ, Hall JG. Source: Genet Couns. 1990; 1(1): 3-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2222919

•

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. Author(s): Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D. Source: The Journal of Clinical Investigation. 2001 July; 108(1): 125-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11435464

•

Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset. Author(s): Cantagrel S, Maury L, Yamamoto AM, Maheut J, Toutain A, Castelnau P. Source: American Journal of Perinatology. 2002 August; 19(6): 297-301. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12357420

•

Amyoplasia (a common form of arthrogryposis). Author(s): Sarwark JF, MacEwen GD, Scott CI Jr. Source: The Journal of Bone and Joint Surgery. American Volume. 1990 March; 72(3): 465-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2179219

•

Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Author(s): Sells JM, Jaffe KM, Hall JG. Source: Pediatrics. 1996 February; 97(2): 225-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8584382

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An animal model of maternal antibody-mediated arthrogryposis multiplex congenita (AMC). Author(s): Jacobson L, Polizzi A, Vincent A. Source: Annals of the New York Academy of Sciences. 1998 May 13; 841: 565-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9668296

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An approach to ventilator-dependent neonates with arthrogryposis. Author(s): Bianchi DW, Van Marter LJ. Source: Pediatrics. 1994 November; 94(5): 682-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7936896

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Anaesthesia for patients with arthrogryposis multiplex congenita: what is the risk of malignant hyperthermia? Author(s): Baines DB, Douglas ID, Overton JH. Source: Anaesthesia and Intensive Care. 1986 November; 14(4): 370-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3565726

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Anaesthesia in arthrogryposis multiplex congenita: case report. Author(s): Oberoi GS, Kaul HL, Gill IS, Batra RK. Source: Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie. 1987 May; 34(3 ( Pt 1)): 288-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3581399

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Anaesthetic management of an obstetrical patient with arthrogryposis multiplex congenita. Author(s): Quance DR. Source: Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie. 1988 November; 35(6): 612-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3203454

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Anesthetic management for patients with arthrogryposis multiplex congenita and severe micrognathia: case reports. Author(s): Nguyen NH, Morvant EM, Mayhew JF. Source: Journal of Clinical Anesthesia. 2000 May; 12(3): 227-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10869924

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Anesthetic management of a patient with arthrogryposis multiplex congenita and limited mouth opening. Author(s): Szmuk P, Ezri T, Warters DR, Katz J. Source: Journal of Clinical Anesthesia. 2001 February; 13(1): 59-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11332407

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Antepartum diagnosis of arthrogryposis associated with trisomy 18. Author(s): Kopelman JN. Source: Military Medicine. 1993 July; 158(7): 498-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8351055

Studies

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Antibodies affecting ion channel function in acquired neuromyotonia, in seropositive and seronegative myasthenia gravis, and in antibody-mediated arthrogryposis multiplex congenita. Author(s): Vincent A, Jacobson L, Plested P, Polizzi A, Tang T, Riemersma S, Newland C, Ghorazian S, Farrar J, MacLennan C, Willcox N, Beeson D, Newsom-Davis J. Source: Annals of the New York Academy of Sciences. 1998 May 13; 841: 482-96. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9668280

•

Arthrogryposis and 46,XY,t(1;16) chromosome constitution. Author(s): Serville F, Dufau-Casanabe J, Fontan D. Source: Clinical Genetics. 1986 May; 29(5): 453-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3742852

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Arthrogryposis and amyoplasia. Author(s): Bernstein RM. Source: J Am Acad Orthop Surg. 2002 November-December; 10(6): 417-24. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12470044

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Arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation. Author(s): Charollais A, Lacroix C, Nouyrigat V, Devictor D, Landrieu P. Source: Neuropediatrics. 2001 February; 32(1): 49-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11315203

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Arthrogryposis associated with connatal Pelizaeus-Merzbacher disease: case report. Author(s): Novotny EJ Jr. Source: Neuropediatrics. 1988 November; 19(4): 221-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3205380

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Arthrogryposis associated with unsuccessful attempts at termination of pregnancy. Author(s): Hall JG. Source: American Journal of Medical Genetics. 1996 May 3; 63(1): 293-300. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8723123

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Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene. Author(s): Bingham PM, Shen N, Rennert H, Rorke LB, Black AW, Marin-Padilla MM, Nordgren RE. Source: Neurology. 1997 September; 49(3): 848-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9305352

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Arthrogryposis multiplex congenita (AMC)--case report. Author(s): Mielnik-Blaszczak M, Borowska M. Source: Ann Univ Mariae Curie Sklodowska [med]. 2002; 57(2): 437-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12898876

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Arthrogryposis multiplex congenita and bilateral mid-brain infarction following maternal overdose of co-proxamol. Author(s): Maalouf EF, Battin M, Counsell SJ, Rutherford MA, Manzur AY. Source: European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 1997; 1(5-6): 183-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10728216

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Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. Author(s): Baker EM, Khorasgani MG, Gardner-Medwin D, Gholkar A, Griffiths PD. Source: Neuropediatrics. 1996 February; 27(1): 54-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8677028

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Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression? Author(s): Mahieu-Caputo D, Salomon LJ, Dommergues M, Aubry MC, Sonigo P, Martinovic Y, Le Merrer M, Dumez Y, Encha-Razavi F. Source: Fetal Diagnosis and Therapy. 2002 May-June; 17(3): 153-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11914567

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Arthrogryposis multiplex congenita and hypotonia in a male neonate. Author(s): Miller A, Solimano A, Norman MG. Source: Pediatr Neurosci. 1987; 13(5): 272-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3504288

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Arthrogryposis multiplex congenita and pituitary ectopia. A case report. Author(s): Parano E, Trifiletti RR, Barone R, Pavone V, Pavone P. Source: Neuropediatrics. 2000 December; 31(6): 325-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11508555

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Arthrogryposis multiplex congenita associated with lissencephaly: a case report. Author(s): Massa G, Casaer P, Ceulemans B, Van Eldere S. Source: Neuropediatrics. 1988 February; 19(1): 24-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3362309

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Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, polydactyly and Hirschprung's disease. Author(s): Sooriyabandara S, Aluwihare AP. Source: Ceylon Med J. 2001 December; 46(4): 156-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12164038

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Arthrogryposis multiplex congenita due to congenital myasthenic syndrome. Author(s): Vajsar J, Sloane A, MacGregor DL, Ronen GM, Becker LE, Jay V. Source: Pediatric Neurology. 1995 April; 12(3): 237-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7619191

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Arthrogryposis multiplex congenita in a monozygotic twin. An intrauterine lesion? Author(s): Mennen U, Williams E. Source: Journal of Hand Surgery (Edinburgh, Lothian). 1996 October; 21(5): 647-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9230953

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Arthrogryposis multiplex congenita in a patient with limited mouth opening: a case report. Author(s): de Andrade CM, Hotta TH, Mazzetto MO, de Felicio CM, Bataglion A. Source: Cranio. 2000 January; 18(1): 66-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11202818

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Arthrogryposis multiplex congenita in an Arab kindred: update. Author(s): Jaber L, Weitz R, Bu X, Fischel-Ghodsian N, Rotter JI, Shohat M. Source: American Journal of Medical Genetics. 1995 January 30; 55(3): 331-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7726232

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Arthrogryposis multiplex congenita in Western Australia. Author(s): Silberstein EP, Kakulas BA. Source: Journal of Paediatrics and Child Health. 1998 December; 34(6): 518-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9928642

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Arthrogryposis multiplex congenita of the temporomandibular joint. Author(s): Hodgson P, Weinberg S, Consky C. Source: Oral Surg Oral Med Oral Pathol. 1988 March; 65(3): 289-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3162578

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Arthrogryposis multiplex congenita with double compartment hydrocephalus. Author(s): Maiti B, Ghosh S, Bhattacharya I, Deb P. Source: J Indian Med Assoc. 1988 August; 86(8): 217-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3230324

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Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. Author(s): Vincent A, Newland C, Brueton L, Beeson D, Riemersma S, Huson SM, Newsom-Davis J. Source: Lancet. 1995 July 1; 346(8966): 24-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7603140

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Arthrogryposis multiplex congenita with Peter's anomaly. Author(s): Alward WL, Krachmer JH, Macsai MS. Source: Journal of Pediatric Ophthalmology and Strabismus. 1990 November-December; 27(6): 329. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2099778

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Arthrogryposis multiplex congenita with posterior column degeneration and peripheral neuropathy: a case report. Author(s): Folkerth RD, Guttentag SH, Kupsky WJ, Kinney HC. Source: Clin Neuropathol. 1993 January-February; 12(1): 25-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8382571

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Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. Author(s): Saraiva JM, Lemos C, Goncalves I, Carneiro F, Mota HC. Source: The Journal of Pediatrics. 1990 November; 117(5): 761-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2231211

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Arthrogryposis multiplex congenita with renal and hepatic abnormalities. Author(s): Saraiva JM, Lemos C, Goncalves I, Mota HC, Carneiro F. Source: American Journal of Medical Genetics. 1992 January 1; 42(1): 140. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1308356

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Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? Author(s): al-Ghamdi MA, Polomeno RC, Chitayat D, Azouz EM, Teebi AS. Source: American Journal of Medical Genetics. 1997 September 5; 71(4): 401-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9286445

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Arthrogryposis multiplex congenita, Pena-Shokeir phenotype, with gastroschisis and agenesis of the leg. Author(s): Agapitos M, Georgiou-Theodoropoulou M, Koutselinis A, Papacharalambus N. Source: Pediatr Pathol. 1988; 8(4): 409-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2974953

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Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome. Author(s): Saraiva JM, Mota HC. Source: Journal of Medical Genetics. 1994 October; 31(10): 820. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7837262

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Arthrogryposis multiplex congenita. Author(s): Grill F. Source: Journal of Pediatric Orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. 1997 July; 6(3): 157-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9260642

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Arthrogryposis multiplex congenita. Author(s): O'Flaherty P. Source: Neonatal Netw. 2001 June; 20(4): 13-20. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12143898

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Arthrogryposis multiplex congenita. Author(s): Gadoth N, Levite R. Source: Brain & Development. 1999 June; 21(4): 283-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10392754

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Arthrogryposis multiplex congenita. Author(s): Gordon N. Source: Brain & Development. 1998 October; 20(7): 507-11. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9840670

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Arthrogryposis multiplex congenita: a report of two cases. Author(s): Brooks JG Jr, Coster DJ. Source: Australian and New Zealand Journal of Ophthalmology. 1994 May; 22(2): 12732. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7917267

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Arthrogryposis multiplex congenita: blood vessel hypoplasia and implications during renal transplantation. Author(s): Soon S, Kapoor A, Ludwin D, Russell D, Whelan P. Source: The Journal of Urology. 2001 January; 165(1): 174. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11125390

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Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. Author(s): Hall JG. Source: Journal of Pediatric Orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. 1997 July; 6(3): 159-66. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9260643

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Arthrogryposis multiplex congenita: otolaryngologic diagnosis and management. Author(s): Paugh DR, Koopmann CF Jr, Babyak JW. Source: International Journal of Pediatric Otorhinolaryngology. 1988 October; 16(1): 4553. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3203986

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Arthrogryposis multiplex congenita: perinatal and electromyographic findings, disability, and psychosocial outcome. Author(s): Sodergard J, Hakamies-Blomqvist L, Sainio K, Ryoppy S, Vuorinen R. Source: Journal of Pediatric Orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. 1997 July; 6(3): 167-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9260644

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Arthrogryposis multiplex congenita: prenatal ultrasonographic diagnosis. Author(s): Gorczyca DP, McGahan JP, Lindfors KK, Ellis WG, Grix A. Source: Journal of Clinical Ultrasound : Jcu. 1989 January; 17(1): 40-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2492549

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Arthrogryposis multiplex congenita: report of a case of amyoplasia. Author(s): Yang MT, Chen CH, Mak SC, Wu KH, Chi CS. Source: Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 March-April; 34(2): 1326. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8372669

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Arthrogryposis multiplex congenita: spectrum of pathologic changes. Author(s): Banker BQ. Source: Human Pathology. 1986 July; 17(7): 656-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3721492

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Arthrogryposis multiplex congenita; feeding, language and other health problems. Author(s): Robinson RO. Source: Neuropediatrics. 1990 November; 21(4): 177-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2290476

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Arthrogryposis multiplex congenita--spinal muscular atrophy association. Author(s): Mathur NB, Nagpal J, Tatke M, Saran RK. Source: Indian Pediatrics. 2003 April; 40(4): 377-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12736422

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Arthrogryposis multiplex in a newborn of a myasthenic mother--case report and literature. Author(s): Dinger J, Prager B. Source: Neuromuscular Disorders : Nmd. 1993 July; 3(4): 335-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8268731

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Arthrogryposis wrist deformities: results of infantile serial casting. Author(s): Smith DW, Drennan JC. Source: Journal of Pediatric Orthopedics. 2002 January-February; 22(1): 44-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11744853

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Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. Author(s): Di Rocco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C, Cremonte M, Borrone C. Source: American Journal of Medical Genetics. 1990 October; 37(2): 237-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2248291

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Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters. Author(s): Stoll C, Alembik Y, Finck S, Janser B. Source: Genet Couns. 1992; 3(1): 35-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1590979

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Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. Author(s): Schrander-Stumpel CT, Howeler CJ, Reekers AD, De Smet NM, Hall JG, Fryns JP. Source: Journal of Medical Genetics. 1993 January; 30(1): 78-80. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8423615

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Arthrogryposis, renal dysfunction and cholestasis syndrome. Author(s): Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM. Source: Saudi Med J. 2000 March; 21(3): 297-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11533803

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Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. Author(s): Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C. Source: European Journal of Pediatrics. 1995 October; 154(10): 835-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8529684

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Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI) Author(s): Franceschini P, Barberis L. Source: European Journal of Pediatrics. 1997 January; 156(1): 78. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9007499

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Arthrogryposis. Author(s): Hall JG. Source: American Family Physician. 1989 January; 39(1): 113-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2643273

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Arthrogryposis. Author(s): Herring JA, Banta JV. Source: Journal of Pediatric Orthopedics. 1988 May-June; 8(3): 353-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3366895

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Arthromyolysis of the elbow in arthrogryposis. Author(s): Andrisano A, Manfrini M, Zucchi M, Mignani G. Source: Ital J Orthop Traumatol. 1988 June; 14(2): 239-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3220729

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Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function. Author(s): Riemersma S, Vincent A, Beeson D, Newland C, Hawke S, Vernet-der Garabedian B, Eymard B, Newsom-Davis J. Source: The Journal of Clinical Investigation. 1996 November 15; 98(10): 2358-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8941654

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Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Author(s): Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Source: American Journal of Medical Genetics. 1991 March 15; 38(4): 557-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2063898

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Asymmetric arthrogryposis multiplex congenita with focal pachygyria. Author(s): Takano T, Aotani H, Takeuchi Y. Source: Pediatric Neurology. 2001 September; 25(3): 247-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11587882

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Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. Author(s): Sztriha L, Al-Gazali LI, Varady E, Goebel HH, Nork M. Source: Neuropediatrics. 1999 June; 30(3): 141-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10480209

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Carpal coalition in arthrogryposis multiplex congenita. Author(s): Orlin H, Alpert M. Source: The British Journal of Radiology. 1967 March; 40(471): 220-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6019046

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Cases of congenital dislocation of the knee (CDK) not associated with clubfoot, arthrogryposis multiplex congenita, and Larsen's syndrome can be treated conservatively. Author(s): Bhatia RK, Pyman J, Gargan MF, Witherow PJ. Source: Journal of Pediatric Orthopedics. 1998 March-April; 18(2): 273-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9531418

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Chromosomal abnormalities associated with congenital contractures (arthrogryposis). Author(s): Reed SD, Hall JG, Riccardi VM, Aylsworth A, Timmons C. Source: Clinical Genetics. 1985 April; 27(4): 353-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3995785

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Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? Author(s): Boles RG. Source: Clinical Dysmorphology. 1999 January; 8(1): 63-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10327254

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Cluster of cases of arthrogryposis. Author(s): Wyatt S, Beach RC, Stuart C, Hallett RJ. Source: Lancet. 1983 March 26; 1(8326 Pt 1): 713. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6132072

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Coincidence of paternal 13pYq translocation and maternal increased 13p NOR activity in a child with arthrogryposis and other malformations. Author(s): Bajnoczky K, Meggyessy V. Source: Acta Paediatr Hung. 1985; 26(2): 151-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4041282

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Complete absence of the cerebellum with arthrogryposis multiplex congenita diagnosed by CT scan. Author(s): Yoshida M, Nakamura M. Source: Surgical Neurology. 1982 January; 17(1): 62-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7071721

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Comprehensive management of arthrogryposis multiplex congenita. Author(s): Thompson GH, Bilenker RM. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 6-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978935

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Concepts of multiple congenital contractures (arthrogryposis) in man and animals. Author(s): Swinyard CA. Source: Teratology. 1982 April; 25(2): 247-58. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7101201

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Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Author(s): Charnas L, Trapp B, Griffin J. Source: Neurology. 1988 June; 38(6): 966-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2835709

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Congenital arthrogryposis associated with atlantoaxial subluxation and dysraphic abnormalities. Case report. Author(s): Luedemann WO, Tatagiba MS, Hussein S, Samii M. Source: Journal of Neurosurgery. 2000 July; 93(1 Suppl): 130-2. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10879769

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Congenital arthrogryposis in pregnancy. Author(s): McGillivray K, Watson AJ. Source: Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology. 2002 March; 22(2): 218-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12528695

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Congenital glaucoma--an association with arthrogryposis multiplex congenita--a case report. Author(s): Kulkarni MV, Panjabi M. Source: Indian J Ophthalmol. 1988 October-December; 36(4): 179-81. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3253215

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Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Author(s): Boylan KB, Ferriero DM, Greco CM, Sheldon RA, Dew M. Source: Annals of Neurology. 1992 March; 31(3): 337-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1637141

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Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita. Author(s): Moerman P, Fryns JP, Van Dijck H, Lauweryns JM. Source: Virchows Arch a Pathol Anat Histopathol. 1985; 408(1): 43-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3933170

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Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex. Author(s): Yuill GM, Lynch PG. Source: Journal of Neurology, Neurosurgery, and Psychiatry. 1974 March; 37(3): 316-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4364274

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Congenital rapidly fatal form of nemaline myopathy with fetal hydrops and arthrogryposis. A case report and review. Author(s): Vardon D, Chau C, Sigodi S, Figarella-Branger D, Boubli L. Source: Fetal Diagnosis and Therapy. 1998 July-August; 13(4): 244-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9784647

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Continuous spinal anesthesia for cesarean delivery in a patient with arthrogryposis multiplex congenita. A clinical report. Author(s): Rozkowski A, Smyczek D, Birnbach DJ. Source: Reg Anesth. 1996 September-October; 21(5): 477-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8896013

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Craniofacial development in arthrogryposis (congenital contractures). Author(s): Hall JG. Source: Birth Defects Orig Artic Ser. 1984; 20(3): 99-111. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6509163

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CT-scanning of skeletal muscle in arthrogryposis multiplex congenita. Author(s): Roscam Abbing PJ, Hageman G, Willemse J. Source: Brain & Development. 1985; 7(5): 484-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4083384

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Detection of mosaic isochromosome 20q in amniotic fluid in a pregnancy with fetal arthrogryposis multiplex congenita and normal karyotype in fetal blood and postnatal samples of placenta, skin, and liver. Author(s): Chen CP. Source: Prenatal Diagnosis. 2003 January; 23(1): 85-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12533820

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Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). Author(s): Hall JG. Source: Pathologica. 1986 November-December; 78(1058): 701-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3320905

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Diagnostic considerations in arthrogryposis syndromes in South Africa. Author(s): Gericke GS, Hall JG, Nelson MM, Beighton PH. Source: Clinical Genetics. 1984 February; 25(2): 155-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6538466

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Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Author(s): Kang PB, Lidov HG, David WS, Torres A, Anthony DC, Jones HR, Darras BT. Source: Annals of Neurology. 2003 December; 54(6): 790-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14681888

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Distal arthrogryposis type 1: clinical analysis of a large kindred. Author(s): Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Source: American Journal of Medical Genetics. 1996 November 11; 65(4): 282-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8923936

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Distal arthrogryposis type II D in three generations of a Brazilian family. Author(s): Pagnan NA, Gollop TR. Source: American Journal of Medical Genetics. 1987 March; 26(3): 613-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3565478

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Distal arthrogryposis type II: a family with varying congenital abnormalities. Author(s): Reiss JA, Sheffield LJ. Source: American Journal of Medical Genetics. 1986 June; 24(2): 255-67. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3717209

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Distal arthrogryposis type IIB in a girl: autosomal recessive inheritance? Author(s): Tsukahara M, Kajii T. Source: Jinrui Idengaku Zasshi. 1984 December; 29(4): 447-51. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6535857

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Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. Author(s): Friedman BD, Heidenreich RA. Source: American Journal of Medical Genetics. 1995 August 28; 58(2): 125-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8533802

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Distal arthrogryposis type IIB: probable autosomal recessive inheritance. Author(s): Rivera MR, Avila CA, Kofman-Alfaro S. Source: Clinical Genetics. 1999 July; 56(1): 95-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10466425

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Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. Author(s): Ioan DM, Belengeanu V, Maximilian C, Fryns JP. Source: Clinical Genetics. 1993 June; 43(6): 300-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8370149

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Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? Author(s): Parker MJ, Groggins RC, Rees PG, Young ID. Source: Clinical Dysmorphology. 1998 July; 7(3): 205-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9689995

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Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. Author(s): Di Rocco M, Erriu MI, Lignana E. Source: American Journal of Medical Genetics. 1992 October 1; 44(3): 391. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1488995

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Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. Author(s): Schrander-Stumpel CT, Fryns JP, Schrander JJ, Vles J. Source: Genet Couns. 1991; 2(2): 69-75. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1723604

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Distal arthrogryposis: a new type with distinct facial appearance and absent teeth. Author(s): Beals RK, LaFranchi S. Source: Journal of Medical Genetics. 2001 July; 38(7): E22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11432965

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Distal femoral extension osteotomy for knee flexion contracture in patients with arthrogryposis. Author(s): DelBello DA, Watts HG. Source: Journal of Pediatric Orthopedics. 1996 January-February; 16(1): 122-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8747369

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Dominant distal arthrogryposis in a Maori family with marked variability of expression. Author(s): Klemp P, Hall JG. Source: American Journal of Medical Genetics. 1995 February 13; 55(4): 414-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7762579

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Duane's retraction syndrome and arthrogryposis multiplex congenita. Author(s): Miller BA, Pollard ZF. Source: Survey of Ophthalmology. 1994 January-February; 38(4): 395-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8160116

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Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome? Author(s): Anderson T. Source: American Journal of Medical Genetics. 1997 August 8; 71(2): 127-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9217208

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Early corrective surgery of the wrist and elbow in arthrogryposis multiplex congenita. Author(s): Mennen U. Source: Journal of Hand Surgery (Edinburgh, Lothian). 1993 June; 18(3): 304-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8345254

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Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia. Author(s): Gullino E, Abrate M, Zerbino E, Bricchi G, Rattazzi PD. Source: Prenatal Diagnosis. 1993 May; 13(5): 411-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8341640

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Electromyographic and histopathologic correlations in arthrogryposis. Author(s): Amick LD, Johnson WW, Smith HL. Source: Archives of Neurology. 1967 May; 16(5): 512-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6022533

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EMG and needle muscle biopsy studies in arthrogryposis multiplex congenita. Author(s): Strehl E, Vanasse M, Brochu P. Source: Neuropediatrics. 1985 November; 16(4): 225-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4080098

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Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome? Author(s): Veggiotti P, Berardinelli A, Fazzi E, Lanzi G. Source: Acta Neurologica Scandinavica. 1995 June; 91(6): 518-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7572052

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Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome? Author(s): Brodtkorb E, Torbergsen T, Nakken KO, Andersen K, Gimse R, Sjaastad O. Source: Acta Neurologica Scandinavica. 1994 October; 90(4): 232-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7839807

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Equinovarus deformity in arthrogryposis and myelomeningocele: evaluation of primary talectomy. Author(s): Segal LS, Mann DC, Feiwell E, Hoffer MM. Source: Foot Ankle. 1989 August; 10(1): 12-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2767561

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Experimental study on the etiology of congenital multiple arthrogryposis. Author(s): Del Torto U, Bianchi O, Pone G, Sante G. Source: Ital J Orthop Traumatol. 1983 March; 9(1): 91-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6885394

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Extending the spectrum of distal arthrogryposis. Author(s): Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG. Source: American Journal of Medical Genetics. 1996 November 11; 65(4): 286-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8923937

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Familial arthrogryposis with distal involvement of the limbs. Author(s): Kasai T, Oki T, Osuga T, Nogami H. Source: Clinical Orthopaedics and Related Research. 1982 June; (166): 182-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7083669

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Familial distal arthrogryposis type I. Author(s): Stoll C, Alembik Y, Dott B. Source: Annales De Genetique. 1996; 39(2): 75-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8766137

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Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? Author(s): Moore CA, Weaver DD. Source: American Journal of Medical Genetics. 1989 June; 33(2): 231-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2764034

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Family studies for the mode of inheritance in arthrogryposis multiplex congenita. Author(s): Bhatnagar DP, Sidhu LS, Aggarwal ND. Source: Z Morphol Anthropol. 1977 July; 68(2): 233-40. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=930240

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Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency. Author(s): Shin YS, Plochl E, Podskarbi T, Muss W, Pilz P, Puttinger R. Source: Journal of Inherited Metabolic Disease. 1994; 17(1): 153-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8051930

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Feeding and toileting devices for a child with arthrogryposis. Author(s): Hall KW, Hammock M. Source: Am J Occup Ther. 1979 October; 33(10): 644-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=506879

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Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter. Author(s): Tanamy MG, Magal N, Halpern GJ, Jaber L, Shohat M. Source: American Journal of Medical Genetics. 2001 November 22; 104(2): 152-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11746047

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Foot and ankle deformities in arthrogryposis multiplex congenita. Author(s): Guidera KJ, Drennan JC. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 93-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978941

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Foot deformities in arthrogryposis multiplex congenita. Author(s): Sodergard J, Ryoppy S. Source: Journal of Pediatric Orthopedics. 1994 November-December; 14(6): 768-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7814592

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Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident. Author(s): Robertson WL, Glinski LP, Kirkpatrick SJ, Pauli RM. Source: Teratology. 1992 April; 45(4): 345-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1533956

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Gastroschisis with omphalomesenteric artery remnant, colonic atresia and arthrogryposis multiplex congenita. Author(s): Komuro H, Watanabe M, Matoba K, Kaneko M. Source: European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery. [et Al] = Zeitschrift Fur Kinderchirurgie. 2003 October; 13(5): 334-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14618526

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Genetic aspects of arthrogryposis. Author(s): Hall JG. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 44-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978933

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Genetic counseling of a couple presenting respectively terminal transverse defects and congenital arthrogryposis. Author(s): De Paepe A, De Bie S. Source: Genet Couns. 1991; 2(4): 195-203. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1799416

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Genito-urinary anomalies in arthrogryposis multiplex congenita. Author(s): Gill IB, Gupta NP, Oberoi GS. Source: British Journal of Urology. 1987 September; 60(3): 276-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2890396

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Goniodysgenesis of the eye with arthrogryposis multiplex congenita. Author(s): Sakamoto T, Tawara A, Inomata H. Source: Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde. 1992; 204(4): 210-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1513553

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Hand assessment and management of arthrogryposis multiplex congenita. Author(s): Bayne LG. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 68-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978937

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Hereditary onycho osteodysplasia (nail-patella syndrome) masquerading as arthrogryposis. Author(s): Lucas GL. Source: Southern Medical Journal. 1967 July; 60(7): 751-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6029327

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Hypermetabolism in arthrogryposis multiplex congenita. Author(s): Hopkins PM, Ellis FR, Halsall PJ. Source: Anaesthesia. 1991 May; 46(5): 374-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2035784

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Hyperthermia during sevoflurane anaesthesia in arthrogryposis multiplex congenita with central nervous system dysfunction. Author(s): Kanaya N, Nakayama M, Nakae Y, Kobayashi I, Tsuchida H, Namiki A. Source: Paediatric Anaesthesia. 1996; 6(5): 428-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8880828

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Hypoechogenicity of fetal long bones: a new ultrasound marker for arthrogryposis. Author(s): Murphy JC, Neale D, Bromley B, Benacerraf BR, Copel JA. Source: Prenatal Diagnosis. 2002 December; 22(13): 1219-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12478637

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Hypomyelination neuropathy in a female newborn presenting as arthrogryposis multiplex congenita. Author(s): Seitz RJ, Wechsler W, Mosny DS, Lenard HG. Source: Neuropediatrics. 1986 August; 17(3): 132-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3762869

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Hypoplasia of posterior spinal roots and dorsal spinal tracts with arthrogryposis multiplex congenita. Author(s): Vogel H, Halpert D, Horoupian DS. Source: Acta Neuropathologica. 1990; 79(6): 692-6. Erratum In: Acta Neuropathol (Berl) 1991; 81(4): 474. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2360413

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In utero movement and use of limbs are necessary for normal growth: a study of individuals with arthrogryposis. Author(s): Hall JG. Source: Prog Clin Biol Res. 1985; 200: 155-62. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4080736

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Incidence of maxillofacial involvement in arthrogryposis multiplex congenita. Author(s): Steinberg B, Nelson VS, Feinberg SE, Calhoun C. Source: Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons. 1996 August; 54(8): 956-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8765384

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Increased collagen synthesis in arthrogryposis multiplex congenita. Author(s): Ionasescu V, Zellweger H, Filer LJ Jr, Conway TW. Source: Archives of Neurology. 1970 August; 23(2): 128-36. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5430332

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Insignificant risk for arthrogryposis multiplex congenita. Author(s): Sadovnick AD. Source: Archives of Neurology. 1985 June; 42(6): 516. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4004596

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Interscalene brachial plexus block for shoulder surgery in a patient with arthrogryposis multiplex congenita. Author(s): Sreevastava D, Trikha A, Sehgal L, Arora MK. Source: Anaesthesia and Intensive Care. 2002 August; 30(4): 495-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12180593

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Intestinal atresia and arthrogryposis. Author(s): Ilyina HG. Source: American Journal of Medical Genetics. 1988 March; 29(3): 673-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3377011

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Intraoperative convulsions in a child with arthrogryposis. Author(s): Ferris PE. Source: Anaesthesia and Intensive Care. 1997 October; 25(5): 546-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9352771

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Intrauterine growth retardation with craniofacial and brain anomalies and arthrogryposis: a new syndrome? Author(s): Van Biervliet JP, Hendrickx G, van Ertbruggen I. Source: Acta Paediatr Belg. 1977 April-June; 30(2): 97-103. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=196478

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Intrauterine osteogenesis imperfecta with arthrogryposis multiplex and regional achondroplasia. Author(s): Guha DK, Rashmi A, Khanduja PC, Kochlar M. Source: Indian Pediatrics. 1969 December; 6(12): 804-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5402443

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Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years. Author(s): Vuopala K, Leisti J, Herva R. Source: Neuropediatrics. 1994 December; 25(6): 308-15. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7770128

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Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases. Author(s): Quinn CM, Wigglesworth JS, Heckmatt J. Source: Histopathology. 1991 August; 19(2): 155-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1757069

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Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). Author(s): Porter HJ. Source: Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association. 1995 JulyAugust; 15(4): 617-37. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8597848

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Lethal arthrogryposis with anterior horn cell disease. Author(s): Vuopala K, Ignatius J, Herva R. Source: Human Pathology. 1995 January; 26(1): 12-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7821908

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Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system. Author(s): Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bernsen A. Source: Neuropediatrics. 1988 November; 19(4): 186-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3205375

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Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Author(s): Hyett J, Noble P, Sebire NJ, Snijders R, Nicolaides KH. Source: Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 1997 May; 9(5): 310-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9201873

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Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome? Author(s): Seidahmed MZ, Sunada Y, Ozo CO, Hamid F, Campbell KP, Salih MA. Source: Neuropediatrics. 1996 December; 27(6): 305-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9050048

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Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature. Author(s): Sombekke BH, Molenaar WM, van Essen AJ, Schoots CJ. Source: Pediatr Pathol. 1994 March-April; 14(2): 277-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8008690

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Lipodystrophic muscular hypertrophy with arthrogryposis multiplex congenita. Author(s): Anand JS. Source: Indian J Pediatr. 1966 May; 33(220): 152-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5914228

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Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. Author(s): Horslen SP, Quarrell OW, Tanner MS. Source: Journal of Medical Genetics. 1994 January; 31(1): 62-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8151641

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Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy. Author(s): Falsaperla R, Romeo G, Di Giorgio A, Pavone P, Parano E, Connolly AM. Source: Journal of Child Neurology. 2001 December; 16(12): 934-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11785510

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Malformation complex. Spondylohypoplasia, arthrogryposis, and popliteal pterygium. Author(s): Turkel SB, Iseri AL, Fujimoto AO. Source: Am J Dis Child. 1980 January; 134(1): 42-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7350786

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Management of arthrogryposis multiplex congenita. A case report. Author(s): Sakamoto FO, Claman L, Klabunde M, Perry T, Horton JE. Source: J Periodontol. 1985 November; 56(11): 694-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3863919

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Management of hip dislocations in children with arthrogryposis. Author(s): Staheli LT, Chew DE, Elliott JS, Mosca VS. Source: Journal of Pediatric Orthopedics. 1987 November-December; 7(6): 681-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3429654

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Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). Author(s): Murray C, Fixsen JA. Source: Journal of Pediatric Orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. 1997 July; 6(3): 186-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9260647

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Management of upper limb problems in arthrogryposis. Author(s): Williams PF. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 60-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978936

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Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. Author(s): Fryns JP, Willekens D, Van Schoubroeck D, Moerman P. Source: Clinical Genetics. 1998 July; 54(1): 86-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9727748

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Marfan's syndrome associated with arthrogryposis in a family. Author(s): Ghosh S. Source: Indian Pediatrics. 1966 September; 3(9): 333-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5976572

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Maternal serum screening abnormality in a fetus associated with arthrogryposis multiplex congenita and amyoplasia. Author(s): Chen CP, Lin SP. Source: Prenatal Diagnosis. 1997 December; 17(12): 1187-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9467818

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Maxillofacial implications and surgical treatment of arthrogryposis multiplex congenita. Author(s): Thomas JA, Chiu-Yeh M, Moriconi ES. Source: Compend Contin Educ Dent. 2001 July; 22(7): 588-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11494619

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Maxillofacial manifestations and management of arthrogryposis: literature review and case report. Author(s): Epstein JB, Wittenberg GJ. Source: Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons. 1987 March; 45(3): 274-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3469370

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Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis. Author(s): Szoke G, Staheli LT, Jaffe K, Hall JG. Source: Journal of Pediatric Orthopedics. 1996 January-February; 16(1): 127-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8747370

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Metabolic defect in arthrogryposis multiplex congenita with renal and hepatic abnormalities. Author(s): DiRocco M, Borrone C. Source: The Journal of Pediatrics. 1991 May; 118(5): 828-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2019948

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Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome. Author(s): Coad JE, Angel C, Pierpont ME, Gorlin RJ, Anderson ML. Source: American Journal of Medical Genetics. 1997 September 5; 71(4): 458-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9286455

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Middle ear deformity in arthrogryposis multiplex congenita. Author(s): Quinn SJ, Bleach NR, Richards AE. Source: The Annals of Otology, Rhinology, and Laryngology. 1994 September; 103(9): 729-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8085736

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Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Author(s): Coelho KE, Sarmento MF, Veiga CM, Speck-Martins CE, Safatle HP, Castro CV, Niikawa N. Source: American Journal of Medical Genetics. 2000 December 11; 95(4): 297-301. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11186880

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Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. Author(s): Vielhaber S, Feistner H, Schneider W, Weis J, Kunz WS. Source: Pediatric Neurology. 2000 January; 22(1): 53-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10669207

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Mouthstick prosthesis for a patient with arthrogryposis multiplex congenita. Author(s): Smokler J, Rappaport SC. Source: The Journal of Prosthetic Dentistry. 1979 September; 42(3): 316-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=289765

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Mouthstick prosthesis placement in a 19-month-old arthrogryposis multiplex congenita patient: case report. Author(s): Ruff JC, Emmanouil DE, Pendzick MJ. Source: Pediatr Dent. 1988 December; 10(4): 320-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2978821

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Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. Author(s): Sullivan TJ, Clarke MP, Heathcote JG, Hunter WS, Rootman DS, Morin JD. Source: Journal of Pediatric Ophthalmology and Strabismus. 1992 November-December; 29(6): 370-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1287175

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Multiple congenital contractures (congenital multiple arthrogryposis). Author(s): Bonilla-Musoles F, Machado LE, Osborne NG. Source: Journal of Perinatal Medicine. 2002; 30(1): 99-104. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11933662

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Muscle ultrasonography in arthrogryposis. Comparison with clinical, neuromyographic and histologic findings in 41 cases. Author(s): Sodergard JM, Jaaskelainen JJ, Ryoppy SA. Source: Acta Orthopaedica Scandinavica. 1993 June; 64(3): 357-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8322599

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Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Author(s): Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Source: American Journal of Human Genetics. 2003 March; 72(3): 681-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12592607

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Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Author(s): Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Source: American Journal of Human Genetics. 2003 July; 73(1): 212-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12865991

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Myopathic arthrogryposis with seizures and abnormal electroencephalogram. Author(s): Kalyanaraman K, Kalyanaraman UP. Source: The Journal of Pediatrics. 1982 February; 100(2): 247-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7057335

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Myopathic form of arthrogryposis and microcirculation lesion. Author(s): Fidzianska A, Goebel HH, Burck-Lehmann U. Source: Journal of the Neurological Sciences. 1989 September; 92(2-3): 337-48. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2809625

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Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect? Author(s): Philpot J, Counsell S, Bydder G, Sewry CA, Dubowitz V, Muntoni F. Source: Neuromuscular Disorders : Nmd. 2001 July; 11(5): 489-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11404123

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Neurogenic arthrogryposis in one identical twin. Author(s): Sul YC, Mrak RE, Evans OB, Fenichel GM. Source: Archives of Neurology. 1982 November; 39(11): 717-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6889849

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Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings. Author(s): Fedrizzi E, Botteon G, Inverno M, Ciceri E, D'Incerti L, Dworzak F. Source: Pediatric Neurology. 1993 September-October; 9(5): 343-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8292208

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Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings. Author(s): Adams C, Becker LE, Murphy EG. Source: Pediatr Neurosci. 1988; 14(2): 97-102. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3251214

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Neuropathic arthrogryposis multiplex congenita and intrauterine ischemia of anterior horn cells: a hypothesis. Author(s): Horoupian DS, Yoon JJ. Source: Clin Neuropathol. 1988 November-December; 7(6): 285-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3224470

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Neuropathic form of arthrogryposis multiplex congenita. Report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles. Author(s): Krugliak L, Gadoth N, Behar AJ. Source: Journal of the Neurological Sciences. 1978 July; 37(3): 179-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=150456

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Neuropathologic aspects of arthrogryposis multiplex congenita. Author(s): Banker BQ. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 30-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978931

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Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis. Author(s): Clarren SK, Hall JG. Source: Journal of the Neurological Sciences. 1983 January; 58(1): 89-102. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6842261

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New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis. Author(s): Johnson VP, Keppen LD, Carpenter MS, Randall BB, Newby PE. Source: American Journal of Medical Genetics. 1997 March 3; 69(1): 73-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9066887

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Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome. Author(s): Zori RT, Gardner JL, Zhang J, Mullan MJ, Shah R, Osborn AR, Houlden H, Wallace MR, Roberts S, Yang TP. Source: American Journal of Medical Genetics. 1998 August 6; 78(5): 450-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9714012

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Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age. Author(s): Scott H, Hunter A, Bedard B. Source: Prenatal Diagnosis. 1999 October; 19(10): 966-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10521824

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Obstetric care in arthrogryposis multiplex congenita. Author(s): Hardwick JC, Irvine GA. Source: Bjog : an International Journal of Obstetrics and Gynaecology. 2002 November; 109(11): 1303-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12452472

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Ocular findings in arthrogryposis multiplex congenita. Author(s): Paez JH, Tuulonen A, Yarom R, Arad I, Zelikovitch A, BenEzra D. Source: Journal of Pediatric Ophthalmology and Strabismus. 1982 March-April; 19(2): 75-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7097464

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Ocular findings in distal arthrogryposis. Author(s): Pallotta R, Ehresmann T, Fusilli P. Source: Ophthalmic Genetics. 2001 June; 22(2): 125-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11455953

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Ophthalmologic findings associated with arthrogryposis multiplex congenita: case report and review of the literature. Author(s): Zeiter JH, Boniuk M. Source: Journal of Pediatric Ophthalmology and Strabismus. 1989 July-August; 26(4): 204-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2490427

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Orofacial manifestations in arthrogryposis: a case report. Author(s): Garfunkel A, Steiner JE. Source: J Oral Med. 1971 April-June; 26(2): 77-81. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5284884

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Orthopaedic management of childhood neuromuscular disease. Part II: peripheral neuropathies, Friedreich's ataxia, and arthrogryposis multiplex congenita. Author(s): Shapiro F, Bresnan MJ. Source: The Journal of Bone and Joint Surgery. American Volume. 1982 July; 64(6): 94953. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6282888

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Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)-evidence for possible autosomal recessive inheritance. Author(s): Brady AF, Patton MA. Source: Clinical Dysmorphology. 1997 October; 6(4): 329-36. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9354841

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Otolaryngological manifestations of arthrogryposis multiplex congenita. Author(s): Cohen SR, Isaacs H Jr. Source: The Annals of Otology, Rhinology, and Laryngology. 1976 July-August; 85(4 Pt 1): 484-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=949154

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Paraplegia and arthrogryposis multiplex of the lower extremities after intrauterine exposure to ergotamine. Author(s): Verloes A, Emonts P, Dubois M, Rigo J, Senterre J. Source: Journal of Medical Genetics. 1990 March; 27(3): 213-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2325101

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Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. Author(s): Hall JG, Reed SD, McGillivray BC, Herrmann J, Partington MW, Schinzel A, Shapiro J, Weaver DD. Source: American Journal of Medical Genetics. 1983 August; 15(4): 591-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6684397

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Passive motion therapy for infants with arthrogryposis. Author(s): Palmer PM, MacEwen GD, Bowen JR, Mathews PA. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 54-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978934

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Perinatal fractures in arthrogryposis multiplex congenita. Author(s): Diamond LS, Alegado R. Source: Journal of Pediatric Orthopedics. 1981; 1(2): 189-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7334094

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Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. Author(s): Jacobson L, Polizzi A, Morriss-Kay G, Vincent A. Source: The Journal of Clinical Investigation. 1999 April; 103(7): 1031-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10194476

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Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology. Author(s): Madazli R, Tuysuz B, Aksoy F, Barbaros M, Uludag S, Ocak V. Source: Fetal Diagnosis and Therapy. 2002 January-February; 17(1): 29-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11803213

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Prenatal diagnosis of arthrogryposis multiplex congenita. Author(s): Bendon R, Dignan P, Siddiqi T. Source: The Journal of Pediatrics. 1987 December; 111(6 Pt 1): 942-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3316568

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Prenatal diagnosis of congenital muscular dystrophy producing arthrogryposis. Author(s): Socol ML, Sabbagha RE, Elias S, Tamura RK, Simpson JL, Dooley SL, Depp R. Source: The New England Journal of Medicine. 1985 November 7; 313(19): 1230. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3903500

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Prenatal diagnosis of congenital myasthenia with arthrogryposis in a myasthenic mother. Author(s): Stoll C, Ehret-Mentre MC, Treisser A, Tranchant C. Source: Prenatal Diagnosis. 1991 January; 11(1): 17-22. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2027850

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Prenatal diagnosis of distal arthrogryposis type 1. Author(s): Dudkiewicz I, Achiron R, Ganel A. Source: Skeletal Radiology. 1999 April; 28(4): 233-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10384996

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Prenatal diagnosis of distal arthrogryposis type I by ultrasonography. Author(s): Bui TH, Lindholm H, Demir N, Thomassen P. Source: Prenatal Diagnosis. 1992 December; 12(12): 1047-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1287640

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Prenatal diagnosis of distal arthrogryposis. Author(s): Baty BJ, Cubberley D, Morris C, Carey J. Source: American Journal of Medical Genetics. 1988 March; 29(3): 501-10. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3287922

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Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. Author(s): Wu YC, Yu MT, Chen LC, Chen CL, Yang ML. Source: American Journal of Medical Genetics. 2003 March 15; 117A(3): 278-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12599193

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Prenatal ultrasound diagnosis of isolated arthrogryposis of feet. Author(s): Degani S, Shapiro I, Lewinsky R, Sharf M. Source: Acta Obstetricia Et Gynecologica Scandinavica. 1989; 68(5): 461-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2520794

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Primary pulmonary hypoplasia and arthrogryposis multiplex congenita. Author(s): Leichtman LG, Say B, Barber N. Source: The Journal of Pediatrics. 1980 May; 96(5): 950-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7365612

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Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I. Author(s): Axt MW, Niethard FU, Doderlein L, Weber M. Source: Journal of Pediatric Orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. 1997 July; 6(3): 179-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9260646

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Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. Author(s): Lev D, Yanoov M, Weintraub S, Lerman-Sagie T. Source: Journal of Medical Genetics. 2000 March; 37(3): 231-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10777369

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Progressive ophthalmoplegia in arthrogryposis multiplex congentia. Author(s): Puri P, Gupta M, Chan J. Source: Eye (London, England). 2002 January; 16(1): 86-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11913897

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Proteus syndrome and distal arthrogryposis. Author(s): Ioan DM, Efimov N, Milcu SM, Fryns JP. Source: Genet Couns. 1997; 8(4): 351-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9457508

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Radiographic manifestations of the arthrogryposis syndrome. Author(s): Poznanski AK, La Rowe PC. Source: Radiology. 1970 May; 95(2): 353-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5439444

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Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita. Author(s): Laubscher B, Janzer RC, Krahenbuhl S, Hirt L, Deonna T. Source: Pediatric Neurology. 1997 October; 17(3): 249-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9390702

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Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother. Author(s): Barnes PR, Kanabar DJ, Brueton L, Newsom-Davis J, Huson SM, Mann NP, Hilton-Jones D. Source: Neuromuscular Disorders : Nmd. 1995 January; 5(1): 59-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7719143

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Restoration of elbow flexion in arthrogryposis multiplex congenita. Author(s): Doyle JR, James PM, Larsen LJ, Ashley RK. Source: The Journal of Hand Surgery. 1980 March; 5(2): 149-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7358956

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Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. Author(s): Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Le T, Pierard GE, Koulischer L. Source: American Journal of Medical Genetics. 1992 June 1; 43(3): 539-47. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1605246

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Scoliosis in arthrogryposis multiplex congenita. Author(s): Drummond DS, Mackenzie DA. Source: Spine. 1978 June; 3(2): 146-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=663765

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Scoliosis in arthrogryposis multiplex congenita. Author(s): Herron LD, Westin GW, Dawson EG. Source: The Journal of Bone and Joint Surgery. American Volume. 1978 April; 60(3): 2939. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=649631

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Scoliosis in arthrogryposis multiplex congenita: results after nonsurgical and surgical treatment. Author(s): Yingsakmongkol W, Kumar SJ. Source: Journal of Pediatric Orthopedics. 2000 September-October; 20(5): 656-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11008749

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Separating Larsen syndrome from the "arthrogryposis basket". Author(s): Houston CS, Reed MH, Desautels JE. Source: J Can Assoc Radiol. 1981 December; 32(4): 206-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7328098

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Separating monosomy-21 from the "arthrogryposis basket". Author(s): Houston CS, Chudley AE. Source: J Can Assoc Radiol. 1981 December; 32(4): 220-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7328100

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Separating Pena-Shokeir I syndrome from the "arthrogryposis basket". Author(s): Houston CS, Shokeir MH. Source: J Can Assoc Radiol. 1981 December; 32(4): 215-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7328099

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Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion. Author(s): Lukusa T, Devriendt K, Holvoet M, Fryns JP. Source: Clinical Genetics. 1998 September; 54(3): 224-30. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9788726

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Severe otolaryngologic manifestations of arthrogryposis multiplex congenita. Author(s): Laureano AN, Rybak LP. Source: The Annals of Otology, Rhinology, and Laryngology. 1990 February; 99(2 Pt 1): 94-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2405763

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Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. Author(s): Finn LS, Zhang M, Chen SH, Scott CR. Source: American Journal of Medical Genetics. 2000 March 20; 91(3): 222-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10756347

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Skin expansion as preparation for an opening wedge osteotomy of the mid-foot in arthrogryposis. Author(s): Buebendorf ND, Concannon MJ, Gaines RW, Puckett CL. Source: Mo Med. 1992 September; 89(9): 671-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1406562

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Spinal deformities in patients with arthrogryposis. A review of 16 patients. Author(s): Daher YH, Lonstein JE, Winter RB, Moe JH. Source: Spine. 1985 September; 10(7): 609-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4071268

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Spondylohypoplasia, arthrogryposis, and popliteal pterygium. Author(s): Torres-Aybar FG, Lizasoain JA. Source: Am J Dis Child. 1980 October; 134(10): 1001. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7424846

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Subsidiary lateral femoral condyle in arthrogryposis multiplex congenita. Author(s): Schopler SA, Menelaus MB. Source: Journal of Pediatric Orthopedics. 1987 July-August; 7(4): 463-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3611345

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Surgical correction of thumb deformity in arthrogryposis multiplex congenita. Author(s): Dangles CJ, Bilos ZJ. Source: Hand. 1981 February; 13(1): 55-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7203183

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Surgical management of arthrogryposis in the upper extremity. Author(s): Bennett JB, Hansen PE, Granberry WM, Cain TE. Source: Journal of Pediatric Orthopedics. 1985 May-June; 5(3): 281-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3998127

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Surgical management of hip dislocation in children with arthrogryposis multiplex congenita. Author(s): Akazawa H, Oda K, Mitani S, Yoshitaka T, Asaumi K, Inoue H. Source: The Journal of Bone and Joint Surgery. British Volume. 1998 July; 80(4): 636-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9699827

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Surgical treatment of arthrogryposis of the elbow. Author(s): Van Heest A, Waters PM, Simmons BP. Source: The Journal of Hand Surgery. 1998 November; 23(6): 1063-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9848560

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Surgical treatment of clubfoot deformity in arthrogryposis multiplex congenita. Author(s): Chang CH, Huang SC. Source: J Formos Med Assoc. 1997 January; 96(1): 30-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9033179

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Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. Author(s): Burglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J. Source: The Journal of Clinical Investigation. 1996 September 1; 98(5): 1130-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8787675

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Syndrome of mental retardation and distal arthrogryposis in sibs. Author(s): Chitayat D, Hodgkinson KA, Blaichman S, Chen ME, Watters GV, Khalife S, Hall JG. Source: American Journal of Medical Genetics. 1991 October 1; 41(1): 49-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1951463

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Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. Author(s): Chitayat D, Hall JG, Couch RM, Phang MS, Baldwin VJ. Source: American Journal of Medical Genetics. 1990 September; 37(1): 65-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2240046

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Talectomy for arthrogryposis multiplex congenita. Author(s): Green AD, Fixsen JA, Lloyd-Roberts GC. Source: The Journal of Bone and Joint Surgery. British Volume. 1984 November; 66(5): 697-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6389557

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Talectomy for club foot in arthrogryposis. Author(s): Hsu LC, Jaffray D, Leong JC. Source: The Journal of Bone and Joint Surgery. British Volume. 1984 November; 66(5): 694-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6501362

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Talectomy for clubfoot in arthrogryposis. Author(s): Cassis N, Capdevila R. Source: Journal of Pediatric Orthopedics. 2000 September-October; 20(5): 652-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11008748

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Talectomy for equinovarus deformity in arthrogryposis and spina bifida. Author(s): Menelaus MB. Source: The Journal of Bone and Joint Surgery. British Volume. 1971 August; 53(3): 46873. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4934997

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Talectomy for equinovarus deformity in arthrogryposis. A 13 (2-20) year review of 17 feet. Author(s): Solund K, Sonne-Holm S, Kjolbye JE. Source: Acta Orthopaedica Scandinavica. 1991 August; 62(4): 372-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1882680

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Talectomy in arthrogryposis: analysis of results. Author(s): D'Souza H, Aroojis A, Chawara GS. Source: Journal of Pediatric Orthopedics. 1998 November-December; 18(6): 760-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9821132

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Talectomy in the treatment of resistant talipes equinovarus deformity in myelomeningocele and arthrogryposis. Author(s): Dias LS, Stern LS. Source: Journal of Pediatric Orthopedics. 1987 January-February; 7(1): 39-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3793909

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Talocalcaneal coalition in arthrogryposis multiplex congenita. Author(s): Grant AD, Rose D, Lehman W. Source: Bull Hosp Jt Dis Orthop Inst. 1982 Fall; 42(2): 236-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6309298

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Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis. Author(s): Polizzi A, Huson SM, Vincent A. Source: Teratology. 2000 November; 62(5): 332-41. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11029151

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The 1960s epidemic of arthrogryposis multiplex congenita: a survey from the United Kingdom, Australia and the United States of America. Author(s): Wynne-Davies R, Williams PF, O'Connor JC. Source: The Journal of Bone and Joint Surgery. British Volume. 1981 February; 63-B(1): 76-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7204479

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The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. Author(s): Christian JC, Andrews PA, Conneally PM, Muller J. Source: Clinical Genetics. 1971; 2(2): 95-103. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5116596

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The association of cortical dysplasia and anterior horn arthrogryposis: a case report. Author(s): Hageman G, Hoogenraad TU, Prevo RL. Source: Brain & Development. 1994 November-December; 16(6): 463-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7694996

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The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis. Author(s): Shapiro F, Specht L. Source: The Journal of Bone and Joint Surgery. American Volume. 1993 November; 75(11): 1699-714. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8245065

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The elbow in arthrogryposis. Author(s): Williams PF. Source: The Journal of Bone and Joint Surgery. British Volume. 1973 November; 55(4): 834-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4766189

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The etiology of arthrogryposis (multiple congenital contracture). Author(s): Swinyard CA, Bleck EE. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 15-29. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3884205

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The heterogeneity of distal arthrogryposis. Author(s): Hageman G, Jennekens FG, Vette JK, Willemse J. Source: Brain & Development. 1984; 6(3): 273-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6091488

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The hip in arthrogryposis multiplex congenita. Author(s): Huurman WW, Jacobsen ST. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 81-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978939

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The knee in arthrogryposis multiplex congenita. Author(s): Sodergard J, Ryoppy S. Source: Journal of Pediatric Orthopedics. 1990 March-April; 10(2): 177-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2312696

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The knee in arthrogryposis. Author(s): Thomas B, Schopler S, Wood W, Oppenheim WL. Source: Clinical Orthopaedics and Related Research. 1985 April; (194): 87-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978940

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The management of arthrogryposis. Author(s): Williams P. Source: The Orthopedic Clinics of North America. 1978 January; 9(1): 67-88. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=643268

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The management of the foot and ankle in arthrogryposis multiplex congenita. Author(s): Drummond DS, Cruess RL. Source: The Journal of Bone and Joint Surgery. British Volume. 1978 February; 60(1): 969. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=627587

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The myopathic variety of arthrogryposis multiplex congenita. Author(s): Padma MV, Sharma AK, Gaikwad S, Maheshwari MC. Source: J Assoc Physicians India. 1995 April; 43(4): 291-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8713273

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The myopathic variety of arthrogryposis multiplex congenita: a disorder with autosomal recessive inheritance. Author(s): Der Kaloustian VM, Afifi AK, Mire J. Source: The Journal of Pediatrics. 1972 July; 81(1): 76-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4338386

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The pathophysiology of arthrogryposis multiplex congenita neurologica. Author(s): Brown LM, Robson MJ, Sharrard WJ. Source: The Journal of Bone and Joint Surgery. British Volume. 1980 August; 62(3): 2916. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7410459

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The spectrum of arthrogryposis in 33 chinese children. Author(s): Wong V. Source: Brain & Development. 1997 April; 19(3): 187-96. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9134190

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The syndrome of arthrogryposis multiplex congenita. Author(s): Drachman DB. Source: Birth Defects Orig Artic Ser. 1971 February; 7(2): 90-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5173748

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The treatment of scoliosis in arthrogryposis multiplex congenita. Author(s): Siebold RM, Winter RB, Moe JH. Source: Clinical Orthopaedics and Related Research. 1974; 0(103): 191-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4416552

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Three distinct types of X-linked arthrogryposis seen in 6 families. Author(s): Hall JG, Reed SD, Scott CI, Rogers JG, Jones KL, Camarano A. Source: Clinical Genetics. 1982 February; 21(2): 81-97. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7200838

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Transient neonatal arthrogryposis: a presumed sequel of antenatal hypoxia. Author(s): Robinow M. Source: American Journal of Medical Genetics. 1986 September; 25(1): 167-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3799717

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Transient neonatal arthrogryposis: another case. Author(s): Robinow M, Miller M. Source: American Journal of Medical Genetics. 1996 December 30; 66(4): 475. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8989472

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Treatment of the upper limb in the child with arthrogryposis. Author(s): Ezaki M. Source: Hand Clin. 2000 November; 16(4): 703-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11117058

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Triceps transfer to restore elbow flexion. A study of fifteen patients with paralytic lesions and arthrogryposis. Author(s): Carroll RE, Hill NA. Source: The Journal of Bone and Joint Surgery. American Volume. 1970 March; 52(2): 239-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5440001

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Twenty-year follow-up of hip problems in arthrogryposis multiplex congenita. Author(s): Yau PW, Chow W, Li YH, Leong JC. Source: Journal of Pediatric Orthopedics. 2002 May-June; 22(3): 359-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11961455

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Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? Author(s): Sonoda T, Kouno K. Source: American Journal of Medical Genetics. 2000 April 10; 91(4): 280-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10766984

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Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome. Author(s): Jequier S, Kozlowski K. Source: Pediatric Radiology. 1987; 17(5): 405-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3627861

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Use of the latissimus dorsi muscle to restore elbow flexion in arthrogryposis. Author(s): Gagnon E, Fogelson N, Seyfer AE. Source: Plastic and Reconstructive Surgery. 2000 December; 106(7): 1582-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11129190

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CHAPTER 2. ALTERNATIVE ARTHROGRYPOSIS

MEDICINE

AND

Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to arthrogryposis. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to arthrogryposis and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “arthrogryposis” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to arthrogryposis: •

Arthrogryposis multiplex congenita, AD 1156. Author(s): Gordon EC. Source: Developmental Medicine and Child Neurology. 1996 January; 38(1): 80-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8606020

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Arthrogryposis multiplex congenita. Author(s): Bender LH, Withrow CA. Source: Orthopaedic Nursing / National Association of Orthopaedic Nurses. 1989 September-October; 8(5): 29-35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2797850

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Congenital arthrogryposis associated with ingestion of jimsonweed by pregnant sows. Author(s): Leipold HW, Oehme FW, Cook JE. Source: J Am Vet Med Assoc. 1973 June 15; 162(12): 1059-60. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4709616

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Diastrophic dwarfism in early infancy. Author(s): LANGER LO Jr. Source: Am J Roentgenol Radium Ther Nucl Med. 1965 February; 93: 399-404. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14258290

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Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. Author(s): Swoboda KJ, Specht L, Jones HR, Shapiro F, DiMauro S, Korson M. Source: The Journal of Pediatrics. 1997 December; 131(6): 932-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9427905

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Perinatal lamb mortality in Western Australia. 7. Congenital defects. Author(s): Dennis SM. Source: Aust Vet J. 1975 February; 51(2): 80-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1172430

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The hand-foot-uterus syndrome: a case study. Author(s): Longmuir GA, Conley RN, Nicholson DL, Whitehead M. Source: Journal of Manipulative and Physiological Therapeutics. 1986 September; 9(3): 213-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3772265

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The nature of congenital limb defects induced in lambs by maternal ingestion of Veratrum californicum. Author(s): Keeler RF, Stuart LD. Source: Journal of Toxicology. Clinical Toxicology. 1987; 25(4): 273-86. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3669113

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

•

AOL: http://search.aol.com/cat.adp?id=169&layer=&from=subcats

Alternative Medicine 51

•

Chinese Medicine: http://www.newcenturynutrition.com/

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drkoop.com: http://www.drkoop.com/InteractiveMedicine/IndexC.html

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Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

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Google: http://directory.google.com/Top/Health/Alternative/

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Healthnotes: http://www.healthnotes.com/

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MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

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Open Directory Project: http://dmoz.org/Health/Alternative/

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HealthGate: http://www.tnp.com/

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WebMDHealth: http://my.webmd.com/drugs_and_herbs

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

•

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 3. DISSERTATIONS ON ARTHROGRYPOSIS Overview In this chapter, we will give you a bibliography on recent dissertations relating to arthrogryposis. We will also provide you with information on how to use the Internet to stay current on dissertations. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical dissertations that use the generic term “arthrogryposis” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on arthrogryposis, we have not necessarily excluded non-medical dissertations in this bibliography.

Dissertations on Arthrogryposis ProQuest Digital Dissertations, the largest archive of academic dissertations available, is located at the following Web address: http://wwwlib.umi.com/dissertations. From this archive, we have compiled the following list covering dissertations devoted to arthrogryposis. You will see that the information provided includes the dissertation’s title, its author, and the institution with which the author is associated. The following covers recent dissertations found when using this search procedure: •

Studies of neuromuscular development in inherited syndrome of arthrogryposis and palatoschisis in Charolais cattle by Russell, Robert Graeme; PhD from The University of Saskatchewan (Canada), 1980 http://wwwlib.umi.com/dissertations/fullcit/NK44388

Keeping Current Ask the medical librarian at your library if it has full and unlimited access to the ProQuest Digital Dissertations database. From the library, you should be able to do more complete searches via http://wwwlib.umi.com/dissertations.

55

CHAPTER 4. BOOKS ON ARTHROGRYPOSIS Overview This chapter provides bibliographic book references relating to arthrogryposis. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on arthrogryposis include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Chapters on Arthrogryposis In order to find chapters that specifically relate to arthrogryposis, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and arthrogryposis using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “arthrogryposis” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on arthrogryposis: •

Diseases of Bone and Cartilage: Pediatric Aspects Source: in Maddison, P.J.; et al., Eds. Oxford Textbook of Rheumatology. Volume 2. New York, NY: Oxford University Press, Inc. 1993. p. 1043-1051. Contact: Available from Oxford University Press, Inc., New York, NY. Summary: This chapter for health professionals examines the pediatric aspects of diseases of bone and cartilage. Generalized skeletal dysplasias are highlighted. Epiphyseal dysplasias are described, including multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia, cartilage-hair hypoplasia, and trichorhinophalangeal dysplasia. Storage diseases are discussed, focusing on mucopolysaccharidoses. The features of mucolipidosis type I, II, and III are presented. The musculoskeletal symptoms of several sphingolipidoses are described, including those of Farber's lipogranulamatosis, Gaucher's disease, and Fabry's disease. Other rare disorders are including multicentric reticulohistiocytosis, Winchester syndrome, Kniest syndrome,

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Moore-Federman disease, Theimann's disease, acro-osteolysis, arthrogryposis, KashinBeck disease, and Mseleni disease. 65 references, 15 figures, and 1 table. •

Complex Craniofacial Disorders Source: in Gerber, S.E. Etiology and Prevention of Communicative Disorders. 2nd ed. San Diego, CA: Singular Publishing Group, Inc. 1998. p. 147-199. Contact: Available from Singular Publishing Group, Inc. 401 West 'A' Street, Suite 325, San Diego, CA 92101-7904. (800) 521-8545 or (619) 238-6777. Fax (800) 774-8398 or (619) 238-6789. E-mail: [email protected]. Website: www.singpub.com. PRICE: $65.00 plus shipping and handling. ISBN: 1565939476. Summary: This chapter on complex craniofacial disorders is from a textbook that focuses on the primary and secondary prevention of communicative disorders. This chapter provides a conceptual framework regarding the relationship of communicative impairment to congenital anomalies of the craniofacial complex. The author first discusses insight and prediction, including the phenotypic spectrum, natural history, and prognosis. Topics include achondroplasia syndrome, amnion disruptions (ADAM) sequence, Apert syndrome, arthrogryposis, Beckwith Wiedemann syndrome, bilateral femoral dysgenesis unusual facies syndrome, Carpenter syndrome, CHARGE association, chromosomal syndromes, clefting and oral teratoma syndrome, cleidocranial dysplasia syndrome, Cornelia de Lange syndrome, craniofrontonasal dysplasia syndrome, craniometaphyseal dysplasia, diatrophic dysplasia syndrome, EEC (ectrodactyly ectodermal dysplasia clefting) syndrome, fetal alcohol effects, fetal hydantoin effects, Freeman Sheldon syndrome, G syndrome (Opitz Frias syndrome), hemifacial microsomia, holoprosencephaly sequence, hypoglossia hypodactyly syndrome, Kniest syndrome, Larsen syndrome, LEOPARD syndrome, lysosomal storage syndrome, Miller Diecker syndrome, multiple synostosis syndrome, Nager syndrome, neurofibromatosis, Noonan syndrome, oral facial digital (OFD) syndromes, otopalatodigital syndrome, Pfeiffer syndrome, popliteal pterygium syndrome, Prader Willi syndrome, Rapp Hodgkin syndrome, Robin deformation sequence, Robinow syndrome, Rubinstein Taybi syndrome, Saethre Chotzen syndrome, Shprintzen Goldberg syndrome (I and II), Sotos syndrome, spondyloepiphyseal dysplasia syndrome, Steinert syndrome, Stickler syndrome, Townes syndrome, Treacher Collins syndrome, Turner syndrome, Van der Woude syndrome, velocardiofacial syndrome, Waardenburg syndrome, Weaver syndrome, and Williams syndrome. The chapter concludes with a glossary of terms and a reference list. 34 figures. 35 references.

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APPENDICES

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APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute7: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

•

National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

•

National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

7

These publications are typically written by one or more of the various NIH Institutes.

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•

National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

•

National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

•

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

•

National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

•

National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

•

National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

•

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

•

National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

•

National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

•

National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

•

National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

•

National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

•

National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

•

Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

•

National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

•

National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

•

Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.8 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:9 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

•

Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

•

Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

8 Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 9 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway10 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.11 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “arthrogryposis” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 1415 12 3 0 95 1525

HSTAT12 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.13 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.14 Simply search by “arthrogryposis” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

10

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

11

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 12 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 13 14

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists15 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.16 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.17 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

The Genome Project and Arthrogryposis In the following section, we will discuss databases and references which relate to the Genome Project and arthrogryposis. Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).18 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information. 15 Adapted 16

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 17 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 18 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

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To search the database, go to http://www.ncbi.nlm.nih.gov/Omim/searchomim.html. Type “arthrogryposis” (or synonyms) into the search box, and click “Submit Search.” If too many results appear, you can narrow the search by adding the word “clinical.” Each report will have additional links to related research and databases. In particular, the option “Database Links” will search across technical databases that offer an abundance of information. The following is an example of the results you can obtain from the OMIM for arthrogryposis: •

Neuropathy, Congenital, with Arthrogryposis Multiplex Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162370 Genes and Disease (NCBI - Map)

The Genes and Disease database is produced by the National Center for Biotechnology Information of the National Library of Medicine at the National Institutes of Health. This Web site categorizes each disorder by system of the body. Go to http://www.ncbi.nlm.nih.gov/disease/, and browse the system pages to have a full view of important conditions linked to human genes. Since this site is regularly updated, you may wish to revisit it from time to time. The following systems and associated disorders are addressed: •

Cancer: Uncontrolled cell division. Examples: Breast and ovarian cancer, Burkitt lymphoma, chronic myeloid leukemia, colon cancer, lung cancer, malignant melanoma, multiple endocrine neoplasia, neurofibromatosis, p53 tumor suppressor, pancreatic cancer, prostate cancer, Ras oncogene, RB: retinoblastoma, von Hippel-Lindau syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Cancer.html

•

Immune System: Fights invaders. Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s disease, DiGeorge syndrome, familial Mediterranean fever, immunodeficiency with Hyper-IgM, severe combined immunodeficiency. Web site: http://www.ncbi.nlm.nih.gov/disease/Immune.html

•

Metabolism: Food and energy. Examples: Adreno-leukodystrophy, atherosclerosis, Best disease, Gaucher disease, glucose galactose malabsorption, gyrate atrophy, juvenile-onset diabetes, obesity, paroxysmal nocturnal hemoglobinuria, phenylketonuria, Refsum disease, Tangier disease, Tay-Sachs disease. Web site: http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

•

Muscle and Bone: Movement and growth. Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome, Marfan syndrome, myotonic dystrophy, spinal muscular atrophy. Web site: http://www.ncbi.nlm.nih.gov/disease/Muscle.html

•

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome, Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease, Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html

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•

Signals: Cellular messages. Examples: Ataxia telangiectasia, Cockayne syndrome, glaucoma, male-patterned baldness, SRY: sex determination, tuberous sclerosis, Waardenburg syndrome, Werner syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Signals.html

•

Transporters: Pumps and channels. Examples: Cystic fibrosis, deafness, diastrophic dysplasia, Hemophilia A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic kidney disease, sickle cell anemia, Wilson’s disease, Zellweger syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Transporters.html Entrez

Entrez is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI). These databases include nucleotide sequences, protein sequences, macromolecular structures, whole genomes, and MEDLINE through PubMed. Entrez provides access to the following databases: •

3D Domains: Domains from Entrez Structure, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Books: Online books, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

•

Genome: Complete genome assemblies, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

•

NCBI’s Protein Sequence Information Survey Results: Web site: http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

•

Nucleotide Sequence Database (Genbank): Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

•

OMIM: Online Mendelian Inheritance in Man, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

•

PopSet: Population study data sets, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

•

ProbeSet: Gene Expression Omnibus (GEO), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Protein Sequence Database: Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

•

PubMed: Biomedical literature (PubMed), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

•

Structure: Three-dimensional macromolecular structures, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

•

Taxonomy: Organisms in GenBank, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then

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select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “arthrogryposis” (or synonyms) into the search box and click “Go.” Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database19 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database20 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “arthrogryposis” (or synonyms) into the search box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

19 Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 20 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on arthrogryposis can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to arthrogryposis. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to arthrogryposis. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “arthrogryposis”:

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Muscle Disorders http://www.nlm.nih.gov/medlineplus/muscledisorders.html Spinal Muscular Atrophy http://www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The NIH Search Utility The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to arthrogryposis. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMDHealth: http://my.webmd.com/health_topics

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Associations and Arthrogryposis The following is a list of associations that provide information on and resources relating to arthrogryposis: •

Arthrogryposis Group Telephone: 01747 8226555 Fax: 01747 822655 Web Site: None Background: The Arthrogryposis Group is a not-for-profit voluntary health organization dedicated to offering contact, information, and support to people with Arthrogryposis and their families. Arthrogryposis is a non-progressive condition that limits range of movement in the joints and is accompanied by muscle weakness. Established in 1984, the organization provides information to professionals and other interested parties, encourages public awareness, and furthers research in the field. In addition, the organization sponsors regional events, activity camps, and annual conferences for all families, Group members, and other interested individuals. Educational materials produced and distributed by the organization include a quarterly newsletter, a documentary video, brochures, and an authoritative booklet.

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to arthrogryposis. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with arthrogryposis. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about arthrogryposis. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “arthrogryposis” (or a synonym), and you will receive information on all relevant organizations listed in the database.

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Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “arthrogryposis”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “arthrogryposis” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “arthrogryposis” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.21

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

21

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)22: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

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Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

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Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

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California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

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California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

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California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

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California: Gateway Health Library (Sutter Gould Medical Foundation)

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California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

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California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

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California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

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California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

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California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

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California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

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California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

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California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

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Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

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Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

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Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

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Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

Finding Medical Libraries

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Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

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Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

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Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

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Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

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Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

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Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

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Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

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Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

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Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

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Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

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Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

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Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

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Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

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Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

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Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

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Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

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Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

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Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

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Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

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Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

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Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

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Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

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Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

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Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

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Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

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Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

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Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

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Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

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Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

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Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

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Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

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Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

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Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

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Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

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Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

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Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

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National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

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National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

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National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

Finding Medical Libraries

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Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

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New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

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New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

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New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

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New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

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New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

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New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

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New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

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New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

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Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

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Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

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Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

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Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

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Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

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Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

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Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

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Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

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Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

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Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

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Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

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South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

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Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

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Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

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Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

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ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

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MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

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Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

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Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

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On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

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Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

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Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a).

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

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MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

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Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

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Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

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ARTHROGRYPOSIS DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Abdomen: That portion of the body that lies between the thorax and the pelvis. [NIH] Ablation: The removal of an organ by surgery. [NIH] Acetylcholine: A neurotransmitter. Acetylcholine in vertebrates is the major transmitter at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system. It is generally not used as an administered drug because it is broken down very rapidly by cholinesterases, but it is useful in some ophthalmological applications. [NIH] Adrenergic: Activated by, characteristic of, or secreting epinephrine or substances with similar activity; the term is applied to those nerve fibres that liberate norepinephrine at a synapse when a nerve impulse passes, i.e., the sympathetic fibres. [EU] Agenesis: Lack of complete or normal development; congenital absence of an organ or part. [NIH]

Agonist: In anatomy, a prime mover. In pharmacology, a drug that has affinity for and stimulates physiologic activity at cell receptors normally stimulated by naturally occurring substances. [EU] Akinesia: 1. Absence or poverty of movements. 2. The temporary paralysis of a muscle by the injection of procaine. [EU] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alpha-1: A protein with the property of inactivating proteolytic enzymes such as leucocyte collagenase and elastase. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Amnion: The extraembryonic membrane which contains the embryo and amniotic fluid. [NIH]

Amniotic Fluid: Amniotic cavity fluid which is produced by the amnion and fetal lungs and kidneys. [NIH] Ampulla: A sac-like enlargement of a canal or duct. [NIH] Anaesthesia: Loss of feeling or sensation. Although the term is used for loss of tactile sensibility, or of any of the other senses, it is applied especially to loss of the sensation of pain, as it is induced to permit performance of surgery or other painful procedures. [EU] Analogous: Resembling or similar in some respects, as in function or appearance, but not in origin or development;. [EU] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU]

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Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Anesthesia: A state characterized by loss of feeling or sensation. This depression of nerve function is usually the result of pharmacologic action and is induced to allow performance of surgery or other painful procedures. [NIH] Animal model: An animal with a disease either the same as or like a disease in humans. Animal models are used to study the development and progression of diseases and to test new treatments before they are given to humans. Animals with transplanted human cancers or other tissues are called xenograft models. [NIH] Ankle: That part of the lower limb directly above the foot. [NIH] Anomalies: Birth defects; abnormalities. [NIH] Anophthalmia: Absence of an eye or eyes in the newborn due to failure of development of the optic cup or to disappearance of the eyes after partial development. [NIH] Anterior Horn Cells: Motor neurons in the anterior (ventral) horn of the spinal cord which project to skeletal muscles. [NIH] Antibacterial: A substance that destroys bacteria or suppresses their growth or reproduction. [EU] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Anus: The opening of the rectum to the outside of the body. [NIH] Aorta: The main trunk of the systemic arteries. [NIH] Aplasia: Lack of development of an organ or tissue, or of the cellular products from an organ or tissue. [EU] Apoptosis: One of the two mechanisms by which cell death occurs (the other being the pathological process of necrosis). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA (DNA fragmentation) at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU]

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Arteries: The vessels carrying blood away from the heart. [NIH] Arterioles: The smallest divisions of the arteries located between the muscular arteries and the capillaries. [NIH] Arteriovenous: Both arterial and venous; pertaining to or affecting an artery and a vein. [EU] Artery: Vessel-carrying blood from the heart to various parts of the body. [NIH] Asymptomatic: Having no signs or symptoms of disease. [NIH] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Atresia: Lack of a normal opening from the esophagus, intestines, or anus. [NIH] Atrium: A chamber; used in anatomical nomenclature to designate a chamber affording entrance to another structure or organ. Usually used alone to designate an atrium of the heart. [EU] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Autoantibodies: Antibodies that react with self-antigens (autoantigens) of the organism that produced them. [NIH] Autoantigens: Endogenous tissue constituents that have the ability to interact with autoantibodies and cause an immune response. [NIH] Axilla: The underarm or armpit. [NIH] Axons: Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body. [NIH] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include cerebrovascular disease; neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] Bifida: A defect in development of the vertebral column in which there is a central deficiency of the vertebral lamina. [NIH] Bilateral: Affecting both the right and left side of body. [NIH] Bile: An emulsifying agent produced in the liver and secreted into the duodenum. Its composition includes bile acids and salts, cholesterol, and electrolytes. It aids digestion of fats in the duodenum. [NIH]

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Biliary: Having to do with the liver, bile ducts, and/or gallbladder. [NIH] Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body. [NIH] Biosynthesis: The building up of a chemical compound in the physiologic processes of a living organism. [EU] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Blastocyst: The mammalian embryo in the post-morula stage in which a fluid-filled cavity, enclosed primarily by trophoblast, contains an inner cell mass which becomes the embryonic disc. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Brachial: All the nerves from the arm are ripped from the spinal cord. [NIH] Brachial Plexus: The large network of nerve fibers which distributes the innervation of the upper extremity. The brachial plexus extends from the neck into the axilla. In humans, the nerves of the plexus usually originate from the lower cervical and the first thoracic spinal cord segments (C5-C8 and T1), but variations are not uncommon. [NIH] Bradycardia: Excessive slowness in the action of the heart, usually with a heart rate below 60 beats per minute. [NIH] Brain Infarction: The formation of an area of necrosis in the brain, including the cerebral hemispheres (cerebral infarction), thalami, basal ganglia, brain stem (brain stem infarctions), or cerebellum secondary to an insufficiency of arterial or venous blood flow. [NIH] Brain Neoplasms: Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. [NIH] Brain Stem: The part of the brain that connects the cerebral hemispheres with the spinal cord. It consists of the mesencephalon, pons, and medulla oblongata. [NIH] Brain Stem Infarctions: Infarctions that occur in the brain stem which is comprised of the midbrain, pons, and medulla. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. [NIH] Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [NIH] Carbon Dioxide: A colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals. [NIH]

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Carcinogens: Substances that increase the risk of neoplasms in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included. [NIH] Cardiac: Having to do with the heart. [NIH] Cardiomyopathy: A general diagnostic term designating primary myocardial disease, often of obscure or unknown etiology. [EU] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Caudal: Denoting a position more toward the cauda, or tail, than some specified point of reference; same as inferior, in human anatomy. [EU] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Death: The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability. [NIH] Cell Division: The fission of a cell. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Central Nervous System Infections: Pathogenic infections of the brain, spinal cord, and meninges. DNA virus infections; RNA virus infections; bacterial infections; mycoplasma infections; Spirochaetales infections; fungal infections; protozoan infections; helminthiasis; and prion diseases may involve the central nervous system as a primary or secondary process. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebellopontine: Going from the cerebellum (the part of the brain responsible for coordinating movement) to the pons (part of the central nervous system located near the base of the brain.) [NIH] Cerebellum: Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Cortex: The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri. It reaches its highest development in man and is responsible for intellectual faculties and higher mental functions. [NIH] Cerebral hemispheres: The two halves of the cerebrum, the part of the brain that controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. The right hemisphere controls muscle movement on the left side of the body, and the left hemisphere controls muscle movement on the right side of the body. [NIH] Cerebral Infarction: The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., infarction, anterior cerebral artery), and etiology (e.g., embolic infarction). [NIH]

Cerebrospinal: Pertaining to the brain and spinal cord. [EU] Cerebrospinal fluid: CSF. The fluid flowing around the brain and spinal cord. Cerebrospinal fluid is produced in the ventricles in the brain. [NIH] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called

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the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Cervical: Relating to the neck, or to the neck of any organ or structure. Cervical lymph nodes are located in the neck; cervical cancer refers to cancer of the uterine cervix, which is the lower, narrow end (the "neck") of the uterus. [NIH] Cervix: The lower, narrow end of the uterus that forms a canal between the uterus and vagina. [NIH] Chin: The anatomical frontal portion of the mandible, also known as the mentum, that contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve. [NIH] Cholestasis: Impairment of biliary flow at any level from the hepatocyte to Vater's ampulla. [NIH]

Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chromosome Abnormalities: Defects in the structure or number of chromosomes resulting in structural aberrations or manifesting as disease. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] Cleft Lip: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. [NIH] Cleft Palate: Congenital fissure of the soft and/or hard palate, due to faulty fusion. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Clubfoot: A deformed foot in which the foot is plantarflexed, inverted and adducted. [NIH] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to

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incomplete fusion of the fetal intraocular fissure during gestation. [NIH] Colon: The long, coiled, tubelike organ that removes water from digested food. The remaining material, solid waste called stool, moves through the colon to the rectum and leaves the body through the anus. [NIH] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Congenita: Displacement, subluxation, or malposition of the crystalline lens. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH]

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Constitutional: 1. Affecting the whole constitution of the body; not local. 2. Pertaining to the constitution. [EU] Constriction: The act of constricting. [NIH] Contractile Proteins: Proteins which participate in contractile processes. They include muscle proteins as well as those found in other cells and tissues. In the latter, these proteins participate in localized contractile events in the cytoplasm, in motile activity, and in cell aggregation phenomena. [NIH] Contracture: A condition of fixed high resistance to passive stretch of a muscle, resulting from fibrosis of the tissues supporting the muscles or the joints, or from disorders of the muscle fibres. [EU] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Convulsions: A general term referring to sudden and often violent motor activity of cerebral or brainstem origin. Convulsions may also occur in the absence of an electrical cerebral discharge (e.g., in response to hypotension). [NIH] Coordination: Muscular or motor regulation or the harmonious cooperation of muscles or groups of muscles, in a complex action or series of actions. [NIH] Cor: The muscular organ that maintains the circulation of the blood. c. adiposum a heart that has undergone fatty degeneration or that has an accumulation of fat around it; called also fat or fatty, heart. c. arteriosum the left side of the heart, so called because it contains oxygenated (arterial) blood. c. biloculare a congenital anomaly characterized by failure of formation of the atrial and ventricular septums, the heart having only two chambers, a single atrium and a single ventricle, and a common atrioventricular valve. c. bovinum (L. 'ox heart') a greatly enlarged heart due to a hypertrophied left ventricle; called also c. taurinum and bucardia. c. dextrum (L. 'right heart') the right atrium and ventricle. c. hirsutum, c. villosum. c. mobile (obs.) an abnormally movable heart. c. pendulum a heart so movable that it seems to be hanging by the great blood vessels. c. pseudotriloculare biatriatum a congenital cardiac anomaly in which the heart functions as a three-chambered heart because of tricuspid atresia, the right ventricle being extremely small or rudimentary and the right atrium greatly dilated. Blood passes from the right to the left atrium and thence disease due to pulmonary hypertension secondary to disease of the lung, or its blood vessels, with hypertrophy of the right ventricle. [EU] Corneum: The superficial layer of the epidermis containing keratinized cells. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Craniocerebral Trauma: Traumatic injuries involving the cranium and intracranial structures (i.e., brain; cranial nerves; meninges; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage. [NIH] Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. [NIH] Cyclopia: Elements of the two eyes fused into one median eye in the center of the forehead of a fetal monster. [NIH] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a

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continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU] Decidua: The epithelial lining of the endometrium that is formed before the fertilized ovum reaches the uterus. The fertilized ovum embeds in the decidua. If the ovum is not fertilized, the decidua is shed during menstruation. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Digestion: The process of breakdown of food for metabolism and use by the body. [NIH] Dilated cardiomyopathy: Heart muscle disease that leads to enlargement of the heart's chambers, robbing the heart of its pumping ability. [NIH] Dilation: A process by which the pupil is temporarily enlarged with special eye drops (mydriatic); allows the eye care specialist to better view the inside of the eye. [NIH] Diploid: Having two sets of chromosomes. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Dislocation: The displacement of any part, more especially of a bone. Called also luxation. [EU]

Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Dorsal: 1. Pertaining to the back or to any dorsum. 2. Denoting a position more toward the back surface than some other object of reference; same as posterior in human anatomy; superior in the anatomy of quadrupeds. [EU] Dorsum: A plate of bone which forms the posterior boundary of the sella turcica. [NIH] Dwarfism: The condition of being undersized as a result of premature arrest of skeletal growth. It may be caused by insufficient secretion of growth hormone (pituitary dwarfism). [NIH]

Dysgenesis: Defective development. [EU] Dysostosis: Defective bone formation. [NIH] Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Ectoderm: The outer of the three germ layers of the embryo. [NIH] Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, focal dermal hypoplasia, and aplasia cutis congenita. [NIH] Effector: It is often an enzyme that converts an inactive precursor molecule into an active second messenger. [NIH] Elastin: The protein that gives flexibility to tissues. [NIH] Electromyography: Recording of the changes in electric potential of muscle by means of surface or needle electrodes. [NIH]

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Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Embryotoxicity: Any toxic effect on the conceptus as a result of prenatal exposure during the embryonic stages of development. [NIH] Encephalopathy: A disorder of the brain that can be caused by disease, injury, drugs, or chemicals. [NIH] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Environmental Exposure: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Epidemic: Occurring suddenly in numbers clearly in excess of normal expectancy; said especially of infectious diseases but applied also to any disease, injury, or other healthrelated event occurring in such outbreaks. [EU] Epidermis: Nonvascular layer of the skin. It is made up, from within outward, of five layers: 1) basal layer (stratum basale epidermidis); 2) spinous layer (stratum spinosum epidermidis); 3) granular layer (stratum granulosum epidermidis); 4) clear layer (stratum lucidum epidermidis); and 5) horny layer (stratum corneum epidermidis). [NIH] Epiphyseal: Pertaining to or of the nature of an epiphysis. [EU] Ergot: Cataract due to ergot poisoning caused by eating of rye cereals contaminated by a fungus. [NIH] Ergotamine: A vasoconstrictor found in ergot of Central Europe. It is an alpha-1 selective adrenergic agonist and is commonly used in the treatment of migraine headaches. [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH] Excrete: To get rid of waste from the body. [NIH] Extremity: A limb; an arm or leg (membrum); sometimes applied specifically to a hand or foot. [EU] Facial: Of or pertaining to the face. [EU] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Femoral: Pertaining to the femur, or to the thigh. [EU] Femur: The longest and largest bone of the skeleton, it is situated between the hip and the knee. [NIH] Fetal Blood: Blood of the fetus. Exchange of nutrients and waste between the fetal and

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maternal blood occurs via the placenta. The cord blood is blood contained in the umbilical vessels at the time of delivery. [NIH] Fetal Distress: Adverse or threatening condition of the fetus identified by fetal bradycardia or tachycardia and passage of meconium in vertex presentation. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Fibula: The bone of the lower leg lateral to and smaller than the tibia. In proportion to its length, it is the most slender of the long bones. [NIH] Fissure: Any cleft or groove, normal or otherwise; especially a deep fold in the cerebral cortex which involves the entire thickness of the brain wall. [EU] Flexion: In gynaecology, a displacement of the uterus in which the organ is bent so far forward or backward that an acute angle forms between the fundus and the cervix. [EU] Fossa: A cavity, depression, or pit. [NIH] Fundus: The larger part of a hollow organ that is farthest away from the organ's opening. The bladder, gallbladder, stomach, uterus, eye, and cavity of the middle ear all have a fundus. [NIH] Ganglia: Clusters of multipolar neurons surrounded by a capsule of loosely organized connective tissue located outside the central nervous system. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ Cells: The reproductive cells in multicellular organisms. [NIH] Gestation: The period of development of the young in viviparous animals, from the time of fertilization of the ovum until birth. [EU] Gestational: Psychosis attributable to or occurring during pregnancy. [NIH] Gestational Age: Age of the conceptus. In humans, this may be assessed by medical history, physical examination, early immunologic pregnancy tests, radiography, ultrasonography, and amniotic fluid analysis. [NIH] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glycogen: A sugar stored in the liver and muscles. It releases glucose into the blood when cells need it for energy. Glycogen is the chief source of stored fuel in the body. [NIH] Glycosaminoglycans: Heteropolysaccharides which contain an N-acetylated hexosamine in

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a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or Nacetylgalactosamine. [NIH] Glycosidic: Formed by elimination of water between the anomeric hydroxyl of one sugar and a hydroxyl of another sugar molecule. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Gravis: Eruption of watery blisters on the skin among those handling animals and animal products. [NIH] Headache: Pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions including subarachnoid hemorrhage; craniocerebral trauma; central nervous system infections; intracranial hypertension; and other disorders. In general, recurrent headaches that are not associated with a primary disease process are referred to as headache disorders (e.g., migraine). [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [NIH] Hepatic: Refers to the liver. [NIH] Hepatocyte: A liver cell. [NIH] Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Histology: The study of tissues and cells under a microscope. [NIH] Holoprosencephaly: Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe mental retardation; cleft lip; cleft palate; seizures; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephlay is associated with chromosome abnormalities. [NIH] Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH]

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Hydrocephalus: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, intracranial hypertension; headache; lethargy; urinary incontinence; and ataxia (and in infants macrocephaly). This condition may be caused by obstruction of cerebrospinal fluid pathways due to neurologic abnormalities, intracranial hemorrhages; central nervous system infections; brain neoplasms; craniocerebral trauma; and other conditions. Impaired resorption of cerebrospinal fluid from the arachnoid villi results in a communicating form of hydrocephalus. Hydrocephalus ex-vacuo refers to ventricular dilation that occurs as a result of brain substance loss from cerebral infarction and other conditions. [NIH] Hydronephrosis: Abnormal enlargement of a kidney, which may be caused by blockage of the ureter (such as by a kidney stone) or chronic kidney disease that prevents urine from draining into the bladder. [NIH] Hydroxylysine: A hydroxylated derivative of the amino acid lysine that is present in certain collagens. [NIH] Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ascorbic acid can result in impaired hydroxyproline formation. [NIH] Hypertelorism: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid. [NIH] Hypertrophy: General increase in bulk of a part or organ, not due to tumor formation, nor to an increase in the number of cells. [NIH] Hypopituitarism: Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FSH; somatotropin; and corticotropin). This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. [NIH] Hypoplasia: Incomplete development or underdevelopment of an organ or tissue. [EU] Hypospadias: A developmental anomaly in the male in which the urethra opens on the underside of the penis or on the perineum. [NIH] Hypotension: Abnormally low blood pressure. [NIH] Hypotonia: A condition of diminished tone of the skeletal muscles; diminished resistance of muscles to passive stretching. [EU] Hypoxia: Reduction of oxygen supply to tissue below physiological levels despite adequate perfusion of the tissue by blood. [EU] Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Immunologic: The ability of the antibody-forming system to recall a previous experience with an antigen and to respond to a second exposure with the prompt production of large amounts of antibody. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] Incontinence: Inability to control the flow of urine from the bladder (urinary incontinence)

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or the escape of stool from the rectum (fecal incontinence). [NIH] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] Infantile: Pertaining to an infant or to infancy. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Ingestion: Taking into the body by mouth [NIH] Innervation: 1. The distribution or supply of nerves to a part. 2. The supply of nervous energy or of nerve stimulus sent to a part. [EU] Insight: The capacity to understand one's own motives, to be aware of one's own psychodynamics, to appreciate the meaning of symbolic behavior. [NIH] Interorbital: Between the orbits. [NIH] Intestinal: Having to do with the intestines. [NIH] Intestines: The section of the alimentary canal from the stomach to the anus. It includes the large intestine and small intestine. [NIH] Intracranial Hemorrhages: Bleeding within the intracranial cavity, including hemorrhages in the brain and within the cranial epidural, subdural, and subarachnoid spaces. [NIH] Intracranial Hypertension: Increased pressure within the cranial vault. This may result from several conditions, including hydrocephalus; brain edema; intracranial masses; severe systemic hypertension; pseudotumor cerebri; and other disorders. [NIH] Involuntary: Reaction occurring without intention or volition. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Karyotype: The characteristic chromosome complement of an individual, race, or species as defined by their number, size, shape, etc. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Kidney Disease: Any one of several chronic conditions that are caused by damage to the cells of the kidney. People who have had diabetes for a long time may have kidney damage. Also called nephropathy. [NIH] Kidney stone: A stone that develops from crystals that form in urine and build up on the inner surfaces of the kidney, in the renal pelvis, or in the ureters. [NIH] Lens: The transparent, double convex (outward curve on both sides) structure suspended

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between the aqueous and vitreous; helps to focus light on the retina. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethal: Deadly, fatal. [EU] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leukemia: Cancer of blood-forming tissue. [NIH] Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Localized: Cancer which has not metastasized yet. [NIH] Luxation: The displacement of the particular surface of a bone from its normal joint, without fracture. [NIH] Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each); those with characteristics of neither major class are called null cells. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue. [NIH] Malabsorption: Impaired intestinal absorption of nutrients. [EU] Malformation: A morphologic developmental process. [EU]

defect

resulting

from

an

intrinsically

abnormal

Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malignant Hyperthermia: Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Meconium: The thick green-to-black mucilaginous material found in the intestines of a fullterm fetus. It consists of secretions of the intestinal glands, bile pigments, fatty acids, amniotic fluid, and intrauterine debris. It constitutes the first stools passed by a newborn. [NIH]

Medical Records: Recording of pertinent information concerning patient's illness or illnesses. [NIH] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Meninges: The three membranes that cover and protect the brain and spinal cord. [NIH]

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Mental: Pertaining to the mind; psychic. 2. (L. mentum chin) pertaining to the chin. [EU] Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior. [NIH]

Metastatic: Having to do with metastasis, which is the spread of cancer from one part of the body to another. [NIH] Microcirculation: The vascular network lying between the arterioles and venules; includes capillaries, metarterioles and arteriovenous anastomoses. Also, the flow of blood through this network. [NIH] Mitosis: A method of indirect cell division by means of which the two daughter nuclei normally receive identical complements of the number of chromosomes of the somatic cells of the species. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [NIH] Motor Activity: The physical activity of an organism as a behavioral phenomenon. [NIH] Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscle Proteins: The protein constituents of muscle, the major ones being ACTINS and MYOSIN. More than a dozen accessary proteins exist including troponin, tropomyosin, and dystrophin. [NIH] Muscle Spindles: Mechanoreceptors found between skeletal muscle fibers. Muscle spindles are arranged in parallel with muscle fibers and respond to the passive stretch of the muscle, but cease to discharge if the muscle contracts isotonically, thus signaling muscle length. The muscle spindles are the receptors responsible for the stretch or myotactic reflex. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Musculoskeletal System: Themuscles, bones, and cartilage of the body. [NIH] Myasthenia: Muscular debility; any constitutional anomaly of muscle. [EU] Myelin: The fatty substance that covers and protects nerves. [NIH] Myopathy: Any disease of a muscle. [EU] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [NIH] Nail-Patella Syndrome: A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the patella and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. [NIH]

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Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Neonatal: Pertaining to the first four weeks after birth. [EU] Neoplasia: Abnormal and uncontrolled cell growth. [NIH] Nephropathy: Disease of the kidneys. [EU] Nerve Fibers: Slender processes of neurons, especially the prolonged axons that conduct nerve impulses. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Neurogenic: Loss of bladder control caused by damage to the nerves controlling the bladder. [NIH] Neurologic: Having to do with nerves or the nervous system. [NIH] Neuromuscular: Pertaining to muscles and nerves. [EU] Neuromuscular Junction: The synapse between a neuron and a muscle. [NIH] Neuronal: Pertaining to a neuron or neurons (= conducting cells of the nervous system). [EU] Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. [NIH] Neuropathy: A problem in any part of the nervous system except the brain and spinal cord. Neuropathies can be caused by infection, toxic substances, or disease. [NIH] Neurotransmitter: Any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. Among the many substances that have the properties of a neurotransmitter are acetylcholine, norepinephrine, epinephrine, dopamine, glycine, y-aminobutyrate, glutamic acid, substance P, enkephalins, endorphins, and serotonin. [EU] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Ocular: 1. Of, pertaining to, or affecting the eye. 2. Eyepiece. [EU] Oncogene: A gene that normally directs cell growth. If altered, an oncogene can promote or allow the uncontrolled growth of cancer. Alterations can be inherited or caused by an environmental exposure to carcinogens. [NIH] Ophthalmoplegia: Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles. [NIH] Optic Chiasm: The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes. [NIH]

Optic Nerve: The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the

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optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system. [NIH] Orthopaedic: Pertaining to the correction of deformities of the musculoskeletal system; pertaining to orthopaedics. [EU] Ossification: The formation of bone or of a bony substance; the conversion of fibrous tissue or of cartilage into bone or a bony substance. [EU] Osteogenesis: The histogenesis of bone including ossification. It occurs continuously but particularly in the embryo and child and during fracture repair. [NIH] Osteogenesis Imperfecta: A collagen disorder resulting from defective biosynthesis of type I collagen and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV. [NIH] Osteolysis: Dissolution of bone that particularly involves the removal or loss of calcium. [NIH]

Osteotomy: The surgical cutting of a bone. [EU] Ovaries: The pair of female reproductive glands in which the ova, or eggs, are formed. The ovaries are located in the pelvis, one on each side of the uterus. [NIH] Overdose: An accidental or deliberate dose of a medication or street drug that is in excess of what is normally used. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH] Palate: The structure that forms the roof of the mouth. It consists of the anterior hard palate and the posterior soft palate. [NIH] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH] Pancreatic cancer: Cancer of the pancreas, a salivary gland of the abdomen. [NIH] Paralysis: Loss of ability to move all or part of the body. [NIH] Parietal: 1. Of or pertaining to the walls of a cavity. 2. Pertaining to or located near the parietal bone, as the parietal lobe. [EU] Parietal Lobe: Upper central part of the cerebral hemisphere. [NIH] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Patella: The flat, triangular bone situated at the anterior part of the knee. [NIH] Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathologic Processes: The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. [NIH] Pathophysiology: Altered functions in an individual or an organ due to disease. [NIH] Pelvic: Pertaining to the pelvis. [EU] Pelvis: The lower part of the abdomen, located between the hip bones. [NIH]

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Penis: The external reproductive organ of males. It is composed of a mass of erectile tissue enclosed in three cylindrical fibrous compartments. Two of the three compartments, the corpus cavernosa, are placed side-by-side along the upper part of the organ. The third compartment below, the corpus spongiosum, houses the urethra. [NIH] Perfusion: Bathing an organ or tissue with a fluid. In regional perfusion, a specific area of the body (usually an arm or a leg) receives high doses of anticancer drugs through a blood vessel. Such a procedure is performed to treat cancer that has not spread. [NIH] Perinatal: Pertaining to or occurring in the period shortly before and after birth; variously defined as beginning with completion of the twentieth to twenty-eighth week of gestation and ending 7 to 28 days after birth. [EU] Perineum: The area between the anus and the sex organs. [NIH] Peripheral Neuropathy: Nerve damage, usually affecting the feet and legs; causing pain, numbness, or a tingling feeling. Also called "somatic neuropathy" or "distal sensory polyneuropathy." [NIH] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phosphorylase: An enzyme of the transferase class that catalyzes the phosphorylysis of a terminal alpha-1,4-glycosidic bond at the non-reducing end of a glycogen molecule, releasing a glucose 1-phosphate residue. Phosphorylase should be qualified by the natural substance acted upon. EC 2.4.1.1. [NIH] Phosphorylase b: The relatively inactive form of phosphorylase that is reactivated to form phosphorylase A by phosphorylase kinase, which catalyzes the enzymatic phosphorylation of the serine residues at the expense of ATP. [NIH] Phosphorylase Kinase: An enzyme that catalyzes the conversion of ATP and phosphorylase b to ADP and phosphorylase a. EC 2.7.1.38. [NIH] Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety. [NIH] Physical Examination: Systematic and thorough inspection of the patient for physical signs of disease or abnormality. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Pituitary Apoplexy: Sudden hemorrhage or ischemic necrosis involving the pituitary gland which may be associated with acute visual loss, severe headache, meningeal signs, cranial nerve palsies, panhypopituitarism, and rarely coma. The most common cause is hemorrhage (intracranial hemorrhages) related to a pituitary adenoma. Ischemia, meningitis, intracranial hypertension, and other disorders may be associated with this condition. [NIH] Pituitary Gland: A small, unpaired gland situated in the sella turcica tissue. It is connected to the hypothalamus by a short stalk. [NIH] Pituitary Neoplasms: Neoplasms which arise from or metastasize to the pituitary gland. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining

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properties (adenoma, basophil; adenoma, acidophil; and adenoma, chromophobe). Pituitary tumors may compress adjacent structures, including the hypothalamus, several cranial nerves, and the optic chiasm. Chiasmal compression may result in bitemporal hemianopsia. [NIH]

Placenta: A highly vascular fetal organ through which the fetus absorbs oxygen and other nutrients and excretes carbon dioxide and other wastes. It begins to form about the eighth day of gestation when the blastocyst adheres to the decidua. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma cells: A type of white blood cell that produces antibodies. [NIH] Plexus: A network or tangle; a general term for a network of lymphatic vessels, nerves, or veins. [EU] Pneumonia: Inflammation of the lungs. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polysaccharide: A type of carbohydrate. It contains sugar molecules that are linked together chemically. [NIH] Pons: The part of the central nervous system lying between the medulla oblongata and the mesencephalon, ventral to the cerebellum, and consisting of a pars dorsalis and a pars ventralis. [NIH] Popliteal: Compression of the nerve at the neck of the fibula. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Postnatal: Occurring after birth, with reference to the newborn. [EU] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Pregnancy Complications: The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. [NIH] Pregnancy Tests: Tests to determine whether or not an individual is pregnant. [NIH] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Procaine: A local anesthetic of the ester type that has a slow onset and a short duration of action. It is mainly used for infiltration anesthesia, peripheral nerve block, and spinal block. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1016). [NIH]

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Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Projection: A defense mechanism, operating unconsciously, whereby that which is emotionally unacceptable in the self is rejected and attributed (projected) to others. [NIH] Proline: A non-essential amino acid that is synthesized from glutamic acid. It is an essential component of collagen and is important for proper functioning of joints and tendons. [NIH] Prosencephalon: The part of the brain developed from the most rostral of the three primary vesicles of the embryonic neural tube and consisting of the diencephalon and telencephalon. [NIH]

Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Prosthesis: An artificial replacement of a part of the body. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Ptosis: 1. Prolapse of an organ or part. 2. Drooping of the upper eyelid from paralysis of the third nerve or from sympathetic innervation. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Pulmonary: Relating to the lungs. [NIH] Pulmonary Artery: The short wide vessel arising from the conus arteriosus of the right ventricle and conveying unaerated blood to the lungs. [NIH] Race: A population within a species which exhibits general similarities within itself, but is both discontinuous and distinct from other populations of that species, though not sufficiently so as to achieve the status of a taxon. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radiography: Examination of any part of the body for diagnostic purposes by means of roentgen rays, recording the image on a sensitized surface (such as photographic film). [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Recurrence: The return of a sign, symptom, or disease after a remission. [NIH]

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Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Reflex: An involuntary movement or exercise of function in a part, excited in response to a stimulus applied to the periphery and transmitted to the brain or spinal cord. [NIH] Refraction: A test to determine the best eyeglasses or contact lenses to correct a refractive error (myopia, hyperopia, or astigmatism). [NIH] Remission: A decrease in or disappearance of signs and symptoms of cancer. In partial remission, some, but not all, signs and symptoms of cancer have disappeared. In complete remission, all signs and symptoms of cancer have disappeared, although there still may be cancer in the body. [NIH] Renal tubular: A defect in the kidneys that hinders their normal excretion of acids. Failure to excrete acids can lead to weak bones, kidney stones, and poor growth in children. [NIH] Resorption: The loss of substance through physiologic or pathologic means, such as loss of dentin and cementum of a tooth, or of the alveolar process of the mandible or maxilla. [EU] Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retinal: 1. Pertaining to the retina. 2. The aldehyde of retinol, derived by the oxidative enzymatic splitting of absorbed dietary carotene, and having vitamin A activity. In the retina, retinal combines with opsins to form visual pigments. One isomer, 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin, or visual purple. Another, all-trans retinal (trans-r.); visual yellow; xanthopsin) results from the bleaching of rhodopsin by light, in which the 11-cis form is converted to the all-trans form. Retinal also combines with opsins in the cones (photopsins) to form the three pigments responsible for colour vision. Called also retinal, and retinene1. [EU] Retinal Ganglion Cells: Cells of the innermost nuclear layer of the retina, the ganglion cell layer, which project axons through the optic nerve to the brain. They are quite variable in size and in the shapes of their dendritic arbors, which are generally confined to the inner plexiform layer. [NIH] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Retinopathy: 1. Retinitis (= inflammation of the retina). 2. Retinosis (= degenerative, noninflammatory condition of the retina). [EU] Retraction: 1. The act of drawing back; the condition of being drawn back. 2. Distal movement of teeth, usually accomplished with an orthodontic appliance. [EU] Retrospective: Looking back at events that have already taken place. [NIH] Retrospective study: A study that looks backward in time, usually using medical records and interviews with patients who already have or had a disease. [NIH] Rigidity: Stiffness or inflexibility, chiefly that which is abnormal or morbid; rigor. [EU] Salivary: The duct that convey saliva to the mouth. [NIH] Sclerae: A circular furrow between the sclerocorneal junction and the iris. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical

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structure, often a vessel or a nerve. [NIH] Scoliosis: A lateral curvature of the spine. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Secretory: Secreting; relating to or influencing secretion or the secretions. [NIH] Segmentation: The process by which muscles in the intestines move food and wastes through the body. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Sensibility: The ability to receive, feel and appreciate sensations and impressions; the quality of being sensitive; the extend to which a method gives results that are free from false negatives. [NIH] Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from glycine or threonine. It is involved in the biosynthesis of purines, pyrimidines, and other amino acids. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Skeletal: Having to do with the skeleton (boney part of the body). [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Somatotropin: A small peptide hormone released by the anterior pituitary under hypothalamic control. Somatotropin, or growth hormone, stimulates mitosis, cell growth, and, for some cell types, differentiation in many tissues of the body. It has profound effects on many aspects of gene expression and metabolism. [NIH] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU]

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Sperm: The fecundating fluid of the male. [NIH] Sphenoid: An unpaired cranial bone with a body containing the sphenoid sinus and forming the posterior part of the medial walls of the orbits. [NIH] Spina bifida: A defect in development of the vertebral column in which there is a central deficiency of the vertebral lamina. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Splint: A rigid appliance used for the immobilization of a part or for the correction of deformity. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Stillbirth: The birth of a dead fetus or baby. [NIH] Stool: The waste matter discharged in a bowel movement; feces. [NIH] Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Symphysis: A secondary cartilaginous joint. [NIH] Synostosis: The joining of contiguous and separate bones by osseous tissue. [NIH] Systemic: Affecting the entire body. [NIH] Systemic disease: Disease that affects the whole body. [NIH] Tachycardia: Excessive rapidity in the action of the heart, usually with a heart rate above 100 beats per minute. [NIH] Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [NIH] Teratoma: A type of germ cell tumor that may contain several different types of tissue, such as hair, muscle, and bone. Teratomas occur most often in the ovaries in women, the testicles in men, and the tailbone in children. Not all teratomas are malignant. [NIH] Testicles: The two egg-shaped glands found inside the scrotum. They produce sperm and male hormones. Also called testes. [NIH] Testis: Either of the paired male reproductive glands that produce the male germ cells and the male hormones. [NIH] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH] Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] Thigh: A leg; in anatomy, any elongated process or part of a structure more or less comparable to a leg. [NIH] Thoracic: Having to do with the chest. [NIH] Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a

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specific function. [NIH] Tone: 1. The normal degree of vigour and tension; in muscle, the resistance to passive elongation or stretch; tonus. 2. A particular quality of sound or of voice. 3. To make permanent, or to change, the colour of silver stain by chemical treatment, usually with a heavy metal. [EU] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxins: Specific, characterizable, poisonous chemicals, often proteins, with specific biological properties, including immunogenicity, produced by microbes, higher plants, or animals. [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Translocation: The movement of material in solution inside the body of the plant. [NIH] Transmitter: A chemical substance which effects the passage of nerve impulses from one cell to the other at the synapse. [NIH] Transplantation: Transference of a tissue or organ, alive or dead, within an individual, between individuals of the same species, or between individuals of different species. [NIH] Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell. [NIH]

Tryptophan: An essential amino acid that is necessary for normal growth in infants and for nitrogen balance in adults. It is a precursor serotonin and niacin. [NIH] Tuberous Sclerosis: A rare congenital disease in which the essential pathology is the appearance of multiple tumors in the cerebrum and in other organs, such as the heart or kidneys. [NIH] Ultrasonography: The visualization of deep structures of the body by recording the reflections of echoes of pulses of ultrasonic waves directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. [NIH] Umbilical Arteries: Either of a pair of arteries originating from the internal iliac artery and passing through the umbilical cord to carry blood from the fetus to the placenta. [NIH] Umbilical Cord: The flexible structure, giving passage to the umbilical arteries and vein, which connects the embryo or fetus to the placenta. [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urinary: Having to do with urine or the organs of the body that produce and get rid of urine. [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterus: The small, hollow, pear-shaped organ in a woman's pelvis. This is the organ in which a fetus develops. Also called the womb. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH]

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Venous: Of or pertaining to the veins. [EU] Venous blood: Blood that has given up its oxygen to the tissues and carries carbon dioxide back for gas exchange. [NIH] Ventral: 1. Pertaining to the belly or to any venter. 2. Denoting a position more toward the belly surface than some other object of reference; same as anterior in human anatomy. [EU] Ventricle: One of the two pumping chambers of the heart. The right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery. The left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta. [NIH] Ventricular: Pertaining to a ventricle. [EU] Venules: The minute vessels that collect blood from the capillary plexuses and join together to form veins. [NIH] Vertebrae: A bony unit of the segmented spinal column. [NIH] Vertebral: Of or pertaining to a vertebra. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villi: The tiny, fingerlike projections on the surface of the small intestine. Villi help absorb nutrients. [NIH] White blood cell: A type of cell in the immune system that helps the body fight infection and disease. White blood cells include lymphocytes, granulocytes, macrophages, and others. [NIH]

Womb: A hollow, thick-walled, muscular organ in which the impregnated ovum is developed into a child. [NIH] Xenograft: The cells of one species transplanted to another species. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

105

INDEX A Abdomen, 79, 93, 96 Ablation, 79, 91 Acetylcholine, 5, 7, 16, 79, 95 Adrenergic, 79, 88 Agenesis, 12, 31, 34, 79 Agonist, 79, 88 Akinesia, 7, 21, 28, 79 Algorithms, 79, 82 Alpha-1, 79, 88, 97 Alternative medicine, 79 Amino Acid Sequence, 79, 80 Amnion, 56, 79 Amniotic Fluid, 20, 79, 89, 93 Ampulla, 79, 84 Anaesthesia, 8, 26, 27, 79 Analogous, 4, 79, 103 Anatomical, 79, 81, 84, 91, 100 Anemia, 65, 80 Anesthesia, 8, 19, 80, 93, 98 Animal model, 7, 80 Ankle, 23, 24, 45, 80 Anomalies, 15, 17, 25, 27, 42, 56, 80 Anophthalmia, 80, 90 Anterior Horn Cells, 33, 80 Antibacterial, 80, 101 Antibiotic, 80, 101 Antibodies, 9, 16, 80, 81, 98 Antibody, 7, 9, 80, 85, 91, 92 Antigen, 12, 80, 85, 91, 92 Anus, 80, 81, 85, 92, 97 Aorta, 80, 104 Aplasia, 80, 87 Apoptosis, 40, 80 Arterial, 80, 81, 82, 83, 86, 99 Arteries, 80, 81, 82, 103 Arterioles, 81, 82, 94 Arteriovenous, 81, 94 Artery, 25, 31, 80, 81, 83, 103 Asymptomatic, 38, 81 Ataxia, 35, 44, 64, 65, 81, 91, 102 Atresia, 25, 27, 81, 86 Atrium, 81, 86, 104 Atrophy, 64, 81 Autoantibodies, 12, 81 Autoantigens, 81 Axilla, 81, 82 Axons, 81, 95, 100

B Bacteria, 80, 81, 101 Basal Ganglia, 81, 82 Basal Ganglia Diseases, 81 Base, 81, 83, 92 Bifida, 81 Bilateral, 10, 56, 81 Bile, 81, 82, 93 Biliary, 82, 84 Biopsy, 20, 23, 33, 82 Biosynthesis, 82, 96, 101 Biotechnology, 4, 5, 61, 63, 64, 65, 82 Bladder, 82, 89, 91, 95, 99, 103 Blastocyst, 82, 85, 98 Blood vessel, 13, 82, 84, 86, 92, 97, 102, 103 Brachial, 27, 82 Brachial Plexus, 27, 82 Bradycardia, 82, 89 Brain Infarction, 10, 82 Brain Neoplasms, 82, 91, 102 Brain Stem, 82, 83 Brain Stem Infarctions, 82 C Calcium, 82, 85, 96 Carbon Dioxide, 82, 98, 104 Carcinogens, 83, 95 Cardiac, 4, 83, 86 Cardiomyopathy, 83 Case report, 8, 9, 10, 11, 12, 15, 18, 19, 29, 31, 32, 35, 43, 83 Caudal, 83, 98 Cell Death, 80, 83, 95 Cell Division, 64, 81, 83, 94, 98 Central Nervous System, 26, 79, 82, 83, 89, 90, 91, 96, 98 Central Nervous System Infections, 83, 90, 91 Cerebellar, 81, 83, 100 Cerebellopontine, 10, 83 Cerebellum, 18, 82, 83, 98, 100 Cerebral, 81, 82, 83, 84, 86, 89, 91, 96 Cerebral Cortex, 81, 83, 89 Cerebral hemispheres, 81, 82, 83, 84 Cerebral Infarction, 82, 83, 91 Cerebrospinal, 83, 91 Cerebrospinal fluid, 83, 91 Cerebrum, 83, 103 Cervical, 82, 84

106

Arthrogryposis

Cervix, 84, 89 Chin, 84, 94 Cholestasis, 13, 15, 16, 29, 84 Chromatin, 80, 84, 93 Chromosomal, 17, 40, 56, 84 Chromosome, 6, 9, 24, 34, 84, 90, 92, 94, 103 Chromosome Abnormalities, 84, 90 Chronic, 64, 84, 88, 91, 92, 98 Chronic renal, 84, 98 Cleft Lip, 84, 90 Cleft Palate, 6, 43, 46, 84, 90 Clinical trial, 3, 61, 84 Cloning, 82, 84 Clubfoot, 17, 41, 42, 84 Cofactor, 84, 99 Collagen, 27, 84, 96, 99 Coloboma, 84, 90 Colon, 64, 85 Complement, 85, 92 Complementary and alternative medicine, 49, 51, 85 Complementary medicine, 49, 85 Computational Biology, 61, 63, 85 Conception, 85, 89, 98 Connective Tissue, 84, 85, 89 Constitutional, 86, 94 Constriction, 86, 92 Contractile Proteins, 32, 86 Contracture, 22, 44, 86 Contraindications, ii, 86 Convulsions, 27, 86 Coordination, 83, 86 Cor, 86, 91 Corneum, 86, 88, 91 Cortex, 86, 100 Cortical, 43, 86, 101, 102 Cranial, 83, 86, 90, 92, 95, 97, 98, 102 Craniocerebral Trauma, 81, 86, 90, 91, 102 Craniofacial Abnormalities, 24, 86 Cyclopia, 86, 90 Cytoplasm, 80, 86, 93 D Decidua, 87, 98 Degenerative, 87, 100 Deletion, 9, 40, 80, 87, 89 Diagnostic procedure, 87 Digestion, 81, 87, 93 Dilated cardiomyopathy, 21, 87 Dilation, 87, 91 Diploid, 87, 94, 98, 103 Direct, iii, 4, 87, 100

Dislocation, 17, 31, 41, 87 Distal, 5, 6, 11, 16, 17, 20, 21, 22, 23, 24, 30, 32, 33, 35, 37, 38, 42, 44, 46, 87, 97, 99, 100 Dorsal, 26, 87, 98 Dorsum, 87 Dwarfism, 50, 87 Dysgenesis, 56, 87 Dysostosis, 34, 87 Dysplasia, 4, 43, 55, 56, 65, 87 Dystrophy, 19, 29, 37, 64, 87, 94 E Ectoderm, 87 Ectodermal Dysplasia, 15, 21, 56, 87 Effector, 79, 85, 87 Elastin, 84, 87 Electromyography, 20, 87 Embryo, 79, 82, 87, 88, 96, 103 Embryotoxicity, 31, 88 Encephalopathy, 9, 88 End-stage renal, 84, 88, 98 Environmental Exposure, 88, 95 Environmental Health, 60, 62, 88 Enzymatic, 82, 85, 88, 97, 100 Enzyme, 87, 88, 94, 97 Epidemic, 43, 88, 102 Epidermis, 86, 87, 88, 91 Epiphyseal, 55, 88 Ergot, 88 Ergotamine, 36, 88 Erythrocytes, 80, 88 Esophagus, 81, 88 Essential Tremor, 64, 88 Excrete, 88, 100 Extremity, 38, 41, 82, 88 F Facial, 11, 21, 22, 42, 46, 56, 86, 88, 90 Family Planning, 61, 88 Femoral, 22, 41, 56, 88 Femur, 88 Fetal Blood, 20, 88 Fetal Distress, 9, 89 Fetus, 6, 30, 88, 89, 93, 98, 102, 103 Fibrosis, 65, 86, 89, 100 Fibula, 89, 98 Fissure, 84, 85, 89 Flexion, 5, 22, 39, 46, 47, 89 Fossa, 83, 89 Fundus, 89 G Ganglia, 79, 81, 89, 95

107

Gene, 4, 6, 9, 24, 30, 33, 41, 65, 66, 82, 89, 95, 101 Gene Deletion, 41, 89 Genotype, 89, 97 Germ Cells, 89, 102 Gestation, 9, 28, 85, 89, 97, 98 Gestational, 34, 89 Gestational Age, 34, 89 Gland, 89, 96, 97, 99, 101 Glucose, 64, 89, 90, 97 Glycogen, 89, 97 Glycosaminoglycans, 89, 94 Glycosidic, 90, 97 Governing Board, 90, 98 Gravis, 9, 38, 43, 90 H Headache, 90, 91, 97 Hemoglobin, 80, 88, 90 Hemoglobinuria, 64, 90 Hepatic, 12, 31, 90 Hepatocyte, 84, 90 Hereditary, 26, 87, 90, 100 Heredity, 89, 90 Heterogeneity, 6, 16, 44, 90 Histology, 29, 90 Holoprosencephaly, 56, 90 Hormonal, 81, 90 Hormone, 87, 90, 97, 101 Hydrocephalus, 11, 91, 92 Hydronephrosis, 46, 91 Hydroxylysine, 84, 91 Hydroxyproline, 84, 91 Hypertelorism, 31, 91 Hypertrophy, 29, 86, 91 Hypopituitarism, 42, 91 Hypoplasia, 13, 26, 31, 37, 55, 87, 91, 94 Hypospadias, 31, 91 Hypotension, 86, 91 Hypotonia, 10, 91 Hypoxia, 46, 91, 102 I Ichthyosis, 16, 40, 91 Immune response, 80, 81, 91 Immunodeficiency, 64, 91 Immunologic, 89, 91 Impairment, 56, 81, 84, 91, 94 Incontinence, 91 Infancy, 50, 92 Infantile, 6, 9, 15, 50, 92 Infarction, 83, 91, 92 Infection, 91, 92, 95, 102, 104 Inflammation, 89, 92, 98, 100

Ingestion, 50, 92 Innervation, 82, 92, 95, 99 Insight, 56, 92 Interorbital, 91, 92 Intestinal, 27, 92, 93 Intestines, 81, 92, 93, 101 Intracranial Hemorrhages, 91, 92, 97, 102 Intracranial Hypertension, 90, 91, 92, 97 Involuntary, 81, 88, 92, 100 Ischemia, 33, 81, 92, 97 K Karyotype, 20, 92 Kb, 60, 92 Kidney Disease, 60, 65, 91, 92 Kidney stone, 91, 92, 100 L Lens, 85, 92 Lesion, 11, 33, 93 Lethal, 6, 18, 19, 28, 29, 34, 39, 93 Lethargy, 91, 93 Leukemia, 64, 93 Ligament, 93, 99 Liver, 15, 20, 29, 81, 82, 89, 90, 93 Localized, 86, 92, 93, 98 Luxation, 87, 93 Lymphocytes, 80, 93, 104 Lymphoid, 80, 93 Lymphoma, 64, 93 M Malabsorption, 64, 93 Malformation, 4, 29, 46, 93 Malignant, 8, 64, 82, 93, 102 Malignant Hyperthermia, 8, 93 Malnutrition, 81, 93, 94 Meconium, 89, 93 Medical Records, 93, 100 MEDLINE, 61, 63, 65, 93 Melanocytes, 93 Melanoma, 64, 93 Membrane, 79, 85, 93, 100 Meninges, 83, 86, 93 Mental, iv, 3, 16, 17, 21, 40, 42, 60, 62, 66, 83, 84, 90, 94, 99 Mental Retardation, 16, 17, 21, 40, 42, 66, 90, 94 Metastatic, 82, 91, 94 Microcirculation, 33, 94 Mitosis, 80, 94, 101 Molecular, 4, 6, 40, 61, 63, 82, 85, 94 Molecule, 80, 81, 85, 87, 90, 94, 97, 99 Monosomy, 39, 94 Motor Activity, 86, 94

108

Arthrogryposis

Mucopolysaccharidoses, 55, 94 Muscle Fibers, 94 Muscle Proteins, 86, 94 Muscle Spindles, 34, 94 Muscular Atrophy, 6, 15, 29, 41, 44, 64, 68, 94 Musculoskeletal System, 94, 96 Myasthenia, 7, 9, 37, 38, 43, 94 Myelin, 18, 94 Myopathy, 6, 19, 94 Myotonic Dystrophy, 64, 94 N Nail-Patella Syndrome, 26, 94 Necrosis, 80, 82, 83, 92, 95, 97 Neonatal, 7, 13, 33, 46, 95 Neoplasia, 64, 95 Nephropathy, 92, 95 Nerve Fibers, 82, 95 Nervous System, 28, 64, 83, 95 Neurogenic, 4, 33, 36, 95 Neurologic, 91, 95 Neuromuscular, 15, 33, 35, 38, 53, 79, 95 Neuromuscular Junction, 79, 95 Neuronal, 9, 40, 95 Neurons, 80, 89, 95 Neuropathy, 19, 26, 64, 95, 97 Neurotransmitter, 79, 95 Nuclei, 94, 95, 96 Nucleus, 80, 81, 84, 86, 93, 95, 102 O Ocular, 35, 95 Oncogene, 64, 95 Ophthalmoplegia, 15, 38, 95 Optic Chiasm, 95, 96, 98 Optic Nerve, 7, 95, 100 Orthopaedic, 13, 14, 30, 35, 38, 44, 49, 96 Ossification, 96 Osteogenesis, 28, 35, 96 Osteogenesis Imperfecta, 28, 96 Osteolysis, 56, 96 Osteotomy, 22, 40, 96 Ovaries, 96, 102 Overdose, 10, 96 Ovum, 87, 89, 96, 104 P Palate, 17, 84, 96 Pancreas, 96 Pancreatic, 64, 96 Pancreatic cancer, 64, 96 Paralysis, 79, 95, 96, 99 Parietal, 10, 96 Parietal Lobe, 96

Paroxysmal, 64, 96 Patella, 94, 96 Pathologic, 14, 80, 82, 96, 100 Pathologic Processes, 80, 96 Pathophysiology, 45, 96 Pelvic, 96, 99 Pelvis, 79, 92, 96, 103 Penis, 91, 97 Perfusion, 91, 97 Perinatal, 4, 14, 32, 36, 50, 97 Perineum, 91, 97 Peripheral Neuropathy, 12, 19, 44, 97 Pharmacologic, 80, 97, 103 Phenotype, 12, 89, 97 Phosphorylase, 24, 97 Phosphorylase b, 24, 97 Phosphorylase Kinase, 97 Phosphorylation, 97 Physical Examination, 89, 97 Physiologic, 79, 82, 97, 99, 100 Pigment, 93, 97 Pituitary Apoplexy, 91, 97 Pituitary Gland, 91, 97 Pituitary Neoplasms, 91, 97 Placenta, 20, 89, 98, 103 Plants, 82, 89, 98, 103 Plasma, 36, 80, 90, 98, 101 Plasma cells, 80, 98 Plexus, 82, 98 Pneumonia, 86, 98 Polycystic, 65, 98 Polypeptide, 79, 84, 98 Polysaccharide, 80, 98 Pons, 82, 83, 98 Popliteal, 29, 40, 56, 98 Posterior, 12, 26, 81, 83, 87, 96, 98, 102 Postnatal, 20, 98 Practice Guidelines, 62, 98 Pregnancy Complications, 7, 98 Pregnancy Tests, 89, 98 Prenatal, 10, 14, 20, 22, 26, 30, 34, 36, 37, 88, 98 Procaine, 79, 98 Progression, 80, 99 Progressive, 19, 38, 69, 84, 94, 95, 99 Projection, 96, 99, 100 Proline, 84, 91, 99 Prosencephalon, 90, 99 Prostate, 64, 99 Prosthesis, 32, 99 Protein S, 65, 82, 99

109

Proteins, 79, 80, 84, 85, 86, 94, 98, 99, 101, 103 Proximal, 87, 99 Psychic, 94, 99, 101 Ptosis, 17, 99 Public Policy, 61, 99 Publishing, 4, 56, 99 Pulmonary, 37, 86, 99, 104 Pulmonary Artery, 99, 104 R Race, 92, 99 Radiation, 88, 91, 99 Radiography, 89, 99 Receptor, 5, 7, 16, 80, 99 Rectum, 80, 85, 92, 99 Recurrence, 10, 99 Red Nucleus, 81, 100 Refer, 1, 85, 100 Reflex, 94, 100 Refraction, 100, 101 Remission, 99, 100 Renal tubular, 16, 100 Resorption, 91, 100 Retina, 93, 95, 100 Retinal, 95, 100 Retinal Ganglion Cells, 95, 100 Retinoblastoma, 64, 100 Retinopathy, 15, 100 Retraction, 22, 100 Retrospective, 7, 100 Retrospective study, 7, 100 Rigidity, 93, 98, 100 S Salivary, 96, 100 Sclerae, 96, 100 Sclerosis, 64, 100 Scoliosis, 39, 45, 101 Screening, 30, 84, 101 Secretion, 87, 91, 101 Secretory, 91, 101 Segmentation, 90, 101 Seizures, 23, 33, 90, 96, 101 Semen, 99, 101 Sensibility, 79, 101 Serine, 97, 101 Serum, 30, 85, 101 Sex Determination, 65, 101 Skeletal, 20, 37, 46, 55, 80, 87, 91, 94, 101 Skeleton, 88, 101 Somatic, 94, 97, 101 Somatotropin, 91, 101 Specialist, 69, 87, 101

Species, 92, 94, 99, 101, 103, 104 Spectrum, 4, 14, 23, 45, 56, 94, 101 Sperm, 84, 102 Sphenoid, 91, 102 Spina bifida, 42, 102 Spinal cord, 4, 34, 80, 82, 83, 93, 95, 100, 102 Splint, 5, 102 Sporadic, 100, 102 Stillbirth, 4, 102 Stool, 85, 92, 102 Subclinical, 92, 101, 102 Symphysis, 84, 99, 102 Synostosis, 56, 102 Systemic, 80, 91, 92, 102 Systemic disease, 91, 102 T Tachycardia, 89, 102 Telangiectasia, 65, 102 Teratoma, 56, 102 Testicles, 102 Testis, 46, 102 Thalamic, 81, 102 Thalamic Diseases, 81, 102 Thigh, 88, 102 Thoracic, 34, 82, 102 Thrombosis, 99, 102 Tissue, 4, 80, 81, 82, 85, 91, 93, 94, 95, 96, 97, 98, 100, 102, 103 Tone, 91, 103 Toxic, iv, 88, 95, 103 Toxicology, 50, 62, 103 Toxins, 80, 92, 103 Transfection, 82, 103 Translocation, 18, 103 Transmitter, 79, 103 Transplantation, 13, 84, 103 Trisomy, 8, 103 Tryptophan, 84, 103 Tuberous Sclerosis, 65, 103 U Ultrasonography, 32, 37, 89, 103 Umbilical Arteries, 103 Umbilical Cord, 37, 103 Urethra, 91, 97, 99, 103 Urinary, 25, 91, 103 Urine, 82, 90, 91, 92, 103 Uterus, 50, 84, 87, 89, 96, 103 V Vascular, 25, 92, 94, 98, 103 Vein, 81, 103 Venous, 81, 82, 83, 99, 104

110

Arthrogryposis

Venous blood, 82, 83, 104 Ventral, 80, 98, 104 Ventricle, 37, 86, 99, 104 Ventricular, 86, 91, 104 Venules, 82, 94, 104 Vertebrae, 102, 104 Vertebral, 81, 102, 104 Veterinary Medicine, 61, 104

Villi, 91, 104 W White blood cell, 80, 93, 98, 104 Womb, 103, 104 X Xenograft, 80, 104 Y Yeasts, 97, 104

111

112

Arthrogryposis

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