BIRTH DEFECTS COMPENDIUM Second Edition BIRTH DEFECTS COMPENDIUM Second Edition

Editor Daniel Bergsma, MD, MPH Clinical Professor of Pediatrics Tufts University, School of Medicine , * * *

M Palgrave Macmillan ©The National Foundation 1973,1979 Softcover reprint of the hardcover 1st edition 1979 978-0-333-27876-5 All rights reserved. No part of this publication may be reproduced or transmitted, in any form or by any means, without permission.

First published in the U.S.A. 1973, as Birth Defects Atlas and Compendium, by The Williams and Wilkins Company. Reprinted 1973,1974. Second Edition, published by Alan R. Liss, Inc., 1979.

First published in the United Kingdom 1979 by THE MACMILLAN PRESS LTD London and Basingstoke Associated companies in Delhi Dublin Hong Kong Johannesburg Lagos Melbourne New York Singapore and Tokyo

ISBN 978-1-349-05133-5 ISBN 978-1-349-05131-1 (eBook) DOI 10.1007/978-1-349-05131-1

Views expressed in articles published are the authors', and are not to be attributed to The National Foundation or its editors unless expressly so stated.

To enhance medical communication in the birth defects field, The National Foundation has published the Birth Defects Atlas and Compendium, Syndrome ldentification, Original Article Series and developed a series of films and related brochures.

Further information can be obtained from: The National Foundation- March of Dimes 1275 Mamaroneck Avenue White Plains, New York 10605

This book is sold subject to the standard conditions of the Net Book Agreement. DEDICATED

To each dear little child who is in need of special help and care: to each eager parent who is desperately, hopefully seeking help: to each professional who brings understanding, knowledge and skillful care: to each generous friend who assists The National Foundation to help.

D. B. Preface

Birth defects by whatever definition exhibit noteworthy additional English language terms or names were also se• variety or complexity, and often overlap. Indeed the over• lected and provided to assist the individual seeking informa• lap also frequently involves the areas of concern of two or tion to find the data desired by use of a presently familiar more medical specialties. Collectively, the diagnosis, treat• index term. All other alphabetized indexed information is ment and genetic counseling associated with birth defects provided as an aid to differential diagnosis. Accordingly, ad• involve the areas of interest and concern of all health pro• ditional index subject headings relate to anatomic parts, fessionals. Accordingly, recorded information about birth signs or symptoms. defects is widely scattered in multiple journals and books The combination "and/or" is rarely used in the text. The under literally thousands of different names. Even with word "or" is used to include either or both. When mutual good library resources available, a select bit of information exclusion is intended, alternate wording is usually employed about a given is often very difficult and time• such as "either a or b." consuming to obtain. If the desired bit of data is unknown, For increased clarity of meaning, the same wording is and hence unrecorded, the total search effort becomes usually used to relay information about risk of recurrence wasted time. to a patient's sib or child when the defect is being trans• Accordingly, this Compendium was designed to assemble mitted by a specific mode of mendelian inheritance. This is the more commonly sought after information about birth summarized in Table 1, Section III. Furthermore, for econ• defects in a standardized format for the convenience of omy of space and of printing cost, a reference is made to students and practitioners of the health professions. De• Table I when two or more modes of mendelian transmission sired data can usually be found under specific subheadings are known, or are thought to occur, for the related defects which have a constant sequence for easier reference. When included in the syndrome. As supplemental etiologic data only fragments of data were available these are provided certain references to McKusick's Mendelian Inheritance in without further comment; expert opinion is distinguished Man were included, eg McK *------. from confirmed data and, when no information was cur• Certain few birth defects have been presented with the rently available, a simple "?"is inserted for clarity, brevity data based upon a single case or kindred identified to date. and certainty, and also as a kind of index of the clinical re• Experience has shown that not infrequently additional pa• search that perhaps should be performed. tients with the same or very similar syndrome defects are For the purpose of this Compeodium the term "Birth identified by other c1inicians once the syndrome has been Defects" includes any anatomic or functional variant from given initial description. the normal range in homo sapiens which is inherited by any Our knowledge of birth defects is such that some present mendelian mode of transmission, or caused by fresh muta• syndrome complexes will one day certainly be recognized tion, any chromosomal abnormality, or by any infectious, as two or more biochemically specific types, some over• chemical or physical insult to the embryo or fetus prior to lapping phenotypes may later be shown to be a single entity birth. as more patients are studied in depth, and surely some as Certain markers, themselves not birth defects, are in• yet unidentified birth defects will be defined. cluded because their genetic transmission is 'known; they Certain birth defects or syndrome types, by present may be distinguished as occurring independently; may be knowledge, are so phenotypically similar that they are pre• associated with certain birth defects; or may affect a pa• sented as single entries in this Compendium. This not only tient's reaction to medication. reduced cost but also emphasized the known differences by For the convenience of physicians who normally use their juxtaposition within the write-up. French, German or Spanish as their primary language, the Each birth defect textual presentation in Section 11 has most commonly used other language name for most birth its own Birth Defect Compendium Number which is placed defects and markers described in this Compendium is pre• at the top left above the selected English primary name for sented under the subtitle "'Includes" in the text and is also that birth defect. It will be observed that these numbers placed alphabetically in the index. The second language were assigned as in the I st Edition in numerical sequence term was omitted for economic reasons when it was so after the selected primary birth defect names were alpha• similar that it was essentially identical. Usually one or more betized. This permits one to find data about a birth defect

vi Preface vii directly in Section II by either its prime name or its Com• work-up in search of possible significant internal defects. pendium Birth Defect Number. For convenience, in the in• Similarly a single major defect in a neonate, such as the pre• dex, each English primary name is in capital letters and sence of only one umbilical artery, requires careful study followed only by its Compendium Birth Defect Number. for possible systemic involvement. Clinicians dealing with a wide spectrum of birth defects, In certain instances promised textual material did not in the absence of both suitable classification and satisfacto• arrive by publication date. It is planned that these and new ry nomenclature, have expressed a strong desire for a "Per• birth defect research data will continually be added to the manent" Birth Defect Number with which to code each computer bank and be available day or night by a telephone birth defect in their files. Such a "more permanent" num• coupled terminal. ber is provided in the Compendium. We utilized a number The pictorial display in Section I, which includes I 08 span of one million and assigned numbers so as to permit pictures in color will hopefully help students in the health alphabetic inclusion not only of all current birth defects professions to identify certain defects more readily and ac• but also provided interval spaces for subsequent alphabet• curately. The textual part of this Compendium (Section II) ized entries. Each such "more permanent" number was des• is provided to indicate the abnormalities which are part of, ignated between 000-001 and 999-999. These new num• derived from, or associated with each birth defect. A total bers may be useful in computer programming as well as for of 392 black and white pictures or drawings are also pre• individual files. In Section II the "more permanent" num• sented to aid in differential diagnosis. ber for each birth defect has been placed at the top right 425 authors from 24 countries, 21 Assistant and 22 As• above the selected primary name for that birth defect. sociate Editors helped to assemble the data compiled in Tables and diagrams or drawings were provided in Sec• this opus. They alone deserve all the credit for the useful tion III to supplement or interrelate certain data contained data contained herein. The Compendium editor initially in the text or index, eg Table II identifies 90 "Metabolic dreamed of the concept involved and then coordinated the Disorders Where Specific Enzyme Defects Have Been De• overall effort to achieve this product. Each constructive sug• scribed," and Table XXIV provides Compendium Birth gestion by any expert will be carefully and seriously con• Defect Number references not only for the Eye as a unit sidered and, as may be feasible, such desired improvements but also for Vision, Nystagmus, Retinal Involvement, etc. will be incorporated promptly into the computer informa• Perpetual clinical curiosity and astute observations are tion retrieval system. necessary to detect many birth defects. With time this may The text of this Compendium was set by computer. To well be increasingly so in order to delineate between a larger save time and expense, when the meaning is clear, incorrect number of similar or overlapping phenotypes. Accordingly, syllabication was not corrected. sex, age, biologic parents and ethnic groups are necessary About 3,000 references to the literature are provided in considerations when clinically determining each anatomic the text. These references in turn provide thousands more feature to be associated with a birth defect in a given pa~ if desired. However, the student of birth defects would tient. The presence of only one or two minor defects espe• surely find supplemental information of value in the Birth cially in adults, is not of great importance but the presence Defects: Original Article Series or Syndrome Identification. of two or three minor defects in a newborn justifies careful Acknowledgments

It is a great pleasure to acknowledge the significant sug• of their time and talents at all stages of our efforts, during gestions and splendid cooperation of the members of the the preparation of both the First and Second Edition of Editorial Board, the invaluable achievements of each Asso• this Compendium, to sort out from among thousands of ciate Editor who helped with the difficult problems of names for birth defects those which might best be for• nomenclature, who selected and assigned authors for birth gotten, those which perhaps should be used as primary defects within designated clusters and who helped to achieve names or, in turn, used as inclusion and index terms for the scientific accuracy; and also to the Assistant Editors who convenience of persons searching for data in the Compend• served in various capacities to help transmute a dream into ium. the reality of the First Edition and continued their dedi• Thanks are also extended to the devoted efforts of cated service to make possible this Second Edition. Connie Fisher, Florence Dickman, Sue Greene, Louis Guten• Acknowledgment is also given to the authors, the medi• tag, Ann K.lek, Cynthia Krusen, Marcia MacDonald, Marilyn cal periodicals and book publishers that granted permission Orlando, David Pachura, Adam Schneider, Eric Whitney, to reproduce certain previously published original photo• and especially Jeanne R. Mudge and Seymour Small who graphs and tables, and to all those who provided unpub• were completely untiring and very helpful in various aspects lished original illustrations or tables. Special thanks is also of this task. extended to my friend, Victor McKusick who graciously Last, but definitely not least, sincere appreciation is felt permitted us to use * number references as recorded in ills and grateful thanks is due my wife, Nellie Dorothy, who very helpful book entitled Mendelifln Inheritance in Man provided patience and encouragement, and to the spouse which contains useful etiologic data and numerous addition• of each Associate and Assistant Editor who made various al references to the literature. sacrifices while time and energy were devoted to this opus. Special acknowledgMent is made to my friends and col• leagues, too numerous to name here, who gave generously D. B.

viii Editorial Board

Delbert A. Fisher, MD William L. Nyhan, MD Professor of Pediatrics and Medicine Professor and Chairman Research Professor of Development and Perinatal Department of Pediatrics Biology University of California, Harbor General Hospital San Diego Torrance, CA 90509 School of Medicine La Jolla, CA 92037 Sydney S. Gellis, MD Professor and Chairman Robert E. Sharkey, MD Department of Pediatrics Kaiser Fom\dation Hospital Tufts University School of Medicine 27 400 Hcsperian Boulevard Boston, MA 02111 Hayward, CA 94545 David W. Smith, MD Robert J. Gorlin, DDS Professor of Pediatrics Professor and Chairman University of Washington Division of Oral School of Medicine University of Minnesota Seattle, WA 98195 School of Dentistry Minneapolis, MN 55455 Robert L. Summitt, MD Professor of Pediatrics, Anatomy and Child Victor A. McKusick, MD Development Chairman Associate Dean of The College of Medicine for Department of Medicine Academic Affairs The Johns Hopkins University University of Tennessee Center for Health School of Medicine Sciences Baltimore, MD 21205 Memphis, TN 38163

Associate Editors

Bernard Becker, MD Sidney Cohlan, MD Professor and Head Professor of Clinical Pediatrics Department of Ophthalmology Associate Director Washington University School of Medicine University Hospital St. Louis, MO 63130 560 First Avenue Marylou Buyse, MD New York, NY 10016 Assistant Professor of Pediatrics Tufts University School of Medicine Marvin Cornblath, MD Associate Director of Medical Affairs Special Assistant to the Scientific Director, Center for Birth Defects Information Services National Institutes of Health Tufts New England Medical Center Clinical Center l3N260 Boston, MA 02111 Bethesda, MD 20014 x Associate Editors

Allen C. Crocker, MD Natalie W. Paul Associate Professor of Pediatrics The National Foundation -March of Dimes Children's Hospital Medical Center 127 5 Mamaroneck Avenue 300 Longwood Avenue White Plains, NY I 0605 Boston, MA 02115 Carl M. Pearson, MD Jean de Grouchy, MD Professor of Medicine Directeur de Recherche C.N.R.S. Director, Division of Rheumatology ER149 C.N.R.S. and U. 173 J.N.S.E.R.M. UCLA School of Medicine Hopi tal des Enfants Malades Los Angeles, CA 90024 149, rue de Sevres 75730 Paris CEDEX 15, France David L. Rimoin, MD Louis K. Diamond, MD Professor of Pediatrics and Medicine Professor of Pediatrics Chief, Division of University of California, Harbor General Hospital San Francisco School of Medicine Torrance, CA 90509 San Francisco, CA 94143 Gerold L. Schiebler, MD Maximo Eduardo Drets, MD Chairman and Professor, Department of Pediatrics Head, Instituto de Investigaci6n de Ciencias Biol6gicas University of Florida College of Medicine Av. Italia 3318 Gainesville, FL 32610 Montevideo, Uruguay Delbert A. Fisher, MD Charles R. Scriver, MD Professor of Pediatrics and Medicine Departments of Pediatrics and Biology Research Professor of Development and Perinatal Biology The McGill University Harbor General Hospital Montreal Children's Hospital Torrance, CA 90509 Montreal, Quebec, H3H 1P3 Canada Samuel T. Giammona, MD Chairman and Professor, Department of Pediatrics Kenneth Shulman, MD Children's Hospital of San Francisco Professor of Neurological Surgery and Pediatrics 3700 California Street Albert Einstein College of Medicine San Francisco, CA 94119 Yeshiva University Robert A. Good, MD Bronx, NY I 0461 President and Director Memorial Sloan-Kettering Cancer Center Jiirgen W. Spranger, MD 1275 York Avenue Department of Pediatrics New York, NY 10021 University Kinderklinik 65 Mainz, Germany Walter E. Nance, MD Professor and Chairman Robert L. Summitt, MD Department of Human Genetics Professor of Pediatrics, Anatomy and Child Medical College of Virginia Development Virginia Commonwealth University Associate Dean of The College of Medicine for MCV Station Academic Affairs Richmond, VA 23298 University of Tennessee Center for The Health Sciences William L. Nyhan, MD Memphis, TN 38163 Professor and Chairman Department of Pediatrics Carl J. Witkop, Jr., DIX> University of California Chairman and Professor of Human and Oral Genetics San Diego, School of Medicine University of Minnesota School of Dentistry La Jolla, CA 92037 Minneapolis, MN 55455 Assistant Editors

Hugh D. Allen, MD Stanley J. Goldberg, MD Associate Professor of Pediatrics (Cardiology) Professor of Pediatrics (Cardiology) Department of Pediatrics Department of Pediatrics Health Sciences Center Health Sciences Center University of Arizona University of Arizona Tucson, AZ 85724 Tucson, AZ 85724 Dr. Salvador Armendares Secci6n de Genetica Professor Dr. P. Gruetzner Institute Mexicano del Segura Social Univ. - Augenklinik Departamento de Investigaci6n Cientlfica D-7 8 Freiburg Apartado Postal 73-032 Germany Mexico, 73, D.F., Mexico Ronald J. Jorgenson, DDS Cor W. R. J. Cremers, MD Assistant Professor Department of Otorhinolaryngology Department of Pediatric Dentistry St. Radboud Hospital Medical University of South Carolina University of Nijmegen Charleston, SC 2940 l Nijmegen, The Netherlands Larry P. Elliott, MD Oonagh C. Kater Chief and Professor Editorial Assistant Division of Cardiovascular Radiology Department of Pediatrics University of Alabama Medical Center University of Florida College of Medicine Birmingham, AL 35233 Gainesville, FL 32610 Peter Farnsworth, MD Professor Jacques LaFourcade Director of Pediatrics Clinique de Pe'diatrie et G€m6tique Medicale Westchester County Medical Center H6pital de la Salpetriere Valhalla, NY 10595 83, bd de !'Hopital Newton Freire-Maia, MD 7 5013 Paris Departamento de Genetica France Institute de Biolog{a Caixa Postal AA Pierre Maroteaux, MD 80.000 Curitiba, Parana Directeur de Recherche, C.N .R.S. Brazil ER 202 C.N.R.S. and U.l2 I.N.S.E.R.M. Jaime L. Frias, MD H6pital des Enfants Malades Professor of Pediatrics 149 rue de sevres Chief, Division of Genetics 75730 Paris CEDEX 15 Department of Pediatrics France University of Florida College of Medicine Gainesville, FL 32610 James J. Nora, MD Professor of Pediatrics Professor Dr. S. J. Geerts Director of Pediatric Cardiology Head, Department of Human Genetics University of Colorado Medical Center University of Nijmegen Denver, CO 80220 Faculty of Medicine Nijmegen, The Netherlands Professor Jean Rey Ira H. Gessner, MD H6pital des Enfants Malades Chief, Division of Cardiology Clinique de Gen6tique Medicate Department of Pediatrics 149, Rue de Sevres University of Florida College of Medicine 75730 Paris CEDEX 15 Gainesville, FL 32610 France

xi xii Contributors

David J. Sahn, MD Dr. med. Peter Ude Associate Professor of Pediatrics Oberarzt Department of Pediatrics der Universitatshautklinik Health Sciences Center Kiel, Germany University of Arizona Tucson, AZ 85724 Dr. med. dent. Werner Utz Universitatsklinik Morton E. Smith, MD fur Zahn, Mund ~u.Kieferkrankheiten Professor of Ophthalmology and Pathology Weimarer Strasse 8 Department of Ophthalmology 23 Kiel, Germany Washington University School of Medicine St. Louis, MO 63110 L. H. S. Van Mierop, ~ Professor of Pediatrics and Pathology Docteur Catherine Turleau University of Florida College of Medicine Chargee de Recherche C.N.R.S. Gainesville, FL 32610 ER 149 C.N.R.S. and U. 173 I.N.S.E.R.M. HOpital des Enfants Malades 149' rue de sevres 75730 Paris CEDEX 15 France

Contributors

Dagfinn Aarskog C. H. Alstr6m Kalim U. Aziz Department of Pediatrics Psykiatriska kliniken Division of Cardiology University of Bergen S:t GOrans Sjukhus The Children's Memorial Hospital Bergen, Norway Stockholm, Sweden Chicago, IL 60614 Donald C. Abele Arthur J. Ammann Henry W. Baird Department of Dermatology Department of Pediatric Immunology St. Christopher's Hospital for Children Medical College of Georgia University of California, San Francisco , PA 19133 Augusta, GA 30904 School of Medicine Lewis A. Barness Donald C. Aberfeld San Francisco, CA 94143 Department of Pediatrics 807 United Nations Plaza Constantine S. Anast University of South Florida New York, NY 10017 Department of 01ild Health College of Medicine Albert M. Abrams University of Missouri School of Medicine Tampa, FL 33620 130 South Saltair Ave. Columbia, MO 65201 Roger A. Barnhart Los Angeles, CA 90049 Rene A. Arcilla Bellingham Medical Center Bellingham, M. J. Acquarelli Department of Pediatrics WA 98225 Department of Otolaryngology University of Chicago, The Pritzker School of James L. Barrett Wadsworth Veterans Administration Hospital Medicine 414 E. Main Street Los Angeles, CA 90073 Chicago, IL 60637 Lancaster, OH 43130 Hugo Aebi Irwin M. Arias Bruce J. Bart Medizinisch~Chemischeslnstitut der Department of Medicine Department of Dermatology Albert Einstein UniversiUit Bern College of Medicine University of Minnesota 3000 Bern, Switzerland Bronx, NY 10461 Medical School, Minneapolis Kyrieckos Aleck H. Brock Armstrong Minneapolis, MN 55455 Department of Medical Genetics Department of Pediatrics Robert S. Bart Harbor General Hospital University of Alberta Medical School New York University Medical Center Torrance, CA 90509 Edmonton 7, Alberta, Canada Skin and Cancer Unit New York, NY 10016 Charles A. Alford, Jr. Keith W. Ashcraft Department of Pediatrics 4400 Broadway Louis E. Bartoshesky University of Alabama School of Medicine Kansas City, MO 64111 New England Medical Center Hospital Birmingham, AL 35233 Boston, MA 02111 Penelope Witte Allderdice James H. Austin Peter Heighton Faculty of Medidne Department of Neurology Department of Human Genetics Memorial University of NewFoundland University of Colorado School of Medicine University of Cape Town Medical School St. John's, Newfoundland, Canada AI C 5S7 Denver, CO 80220 Cape Town, South Africa Contributors xiii

H. Bennhold Jessie Bodenhoff Joe C. Christian Medizinschc Univcrsiti:its-Klinik Mycological Department Department of Medical Genetics 74 TObingcn, West Germany Statens Seruminstitut Indiana University Medical Center 2300 Copenhagen, Denmark Indianapolis, IN 46202 William R. Bergren 1446 Morada Place Jan A. BOOk H. William Clatworthy, Jr. Altadena, CA 91001 The Institute for Medical Genetics 904 East Broad Street University of Uppsala Columbus, OH 43205 Donald R. Bergsma Uppsala, Sweden Department of Ophthalmology C. C. Oawson University of Kentucky College of Medi- Wayne H. Borges Department of Pediatrics cine Department of Hematology University of Minnesota Medical School, l'vfinncapolis Lexington, K Y 40506 The Children's IVIemorial Hospital Minneapolis, MN 55455 Chicago, IL 60614 La Vonne Bergstrom William E. Clendenning Division Head & Neck Surgery Barbara J. Bourland Hitchcock Clinic UCLA Center for Health Sciences Department of Pediatrics Hanover, NH 03755 Los Angeles, CA 90024 Baylor College of Medicine Hartwig Oeve Houston, TX 77025 Michael A. Berman Department of Anthropology & Human Department of Pediatrics Peter Bowen Genetics University of Maryland Sehoul of Medicine Department of Pediatrics University of Munich Baltimore, MD 21201 University of Alberta lvtcdical School 8 Munich 2, Germany Edmonton 7, Alberta, Canada Joel M. Bernstein Jay T. Cline 191 West North Street W. Roy Brcg Department of Pediatric Dentistry Buffalo, NY 14201 Yale University School of Medicine University of Minnesota School of Dentistry New Haven, CT 06510 Minneapolis, MN 55455 Frederick R. Bieber Department of Human Genetics Richard L. Bucciarelli David Cogan Medical College of Virginia Department of Pediatrics (Cardiology) Clinical Branch Institute Richmond, VA 23298 University of Florida Col\cge of Medicine National Eye Gainesville, FL 32610 Bethesda, MD 20014 Nesrin Bingo! New York Medical College Marylou Buyse M. Michael Cohen, Jr. New York, NY 10029 New England Medical Center Hospital Department of Orthodontics Boston, MA 02111 University of Washington School of Harry C. Bishop Dentistry Department of Pediatric Surgery Thomas C. Calcaterra Seattle, WA 98105 University of School of Department of Surgery Medicine University of California, Los Angeles School of M. Michael Cohen, Sr. Philadelphia, PA 19104 Medicine 1101 Beacon Street Los Angeles, CA 90024 Brookline, MA 02146 John A. Black The Children's Hospital Richard M. Caplan David E. Comings Sheffield S 10 2TH England Department of Dermatology Department of Medical Genetics of Iowa College of Medicine City of Hope Medical Center Harry M. Blackficld University Iowa City, lA 52242 Duarte, CA 91010 45 Castro San Francisco, CA 94114 Cedric 0. Carter Louis Z. Cooper MRC Clinical Genetics Unit Department of Pediatrics R. W. Blaine* Institute of Child Health Roosevelt Hospital John H. Bland London, England WClN lEH New York, NY 10019 Medical Center Hospital of Vermont Jean A. Cortner University of Vermont College of Medicine Vernon H. Carter Olildren's Hospital Burlington, VT 05401 455 South Federal Highway Boca Raton, FL 33432 Philadelphia, PA 19104 John P. Blass John C. Crawhall Neuropsychiatric Institute Suzanne B. C.assidy University of McGill Clinic UCLA-Center for Health Sciences 4324 NE 44th Street WA 98105 Montreal 11, P.Q. Canada Los Angeles, CA 90024 Seattle, Stephen D. Cederbaum Robert M. Blizzard Cor W. R . .1. Cremers Neuropsychiatric Institute Department of Pediatrics Department of Otorhinolaryngology UCLA-Center for Health Sciences University of Virginia School of Medicine St. Radboud Hospital Los Angeles, CA 90024 Charlottesville, VA 22901 University of Nijmegen William E. Bloomer .laroslav Cervenka Nijmegen, The Netherlands 3440 Atlantic Avenue Divisions of Oral Pathology & Human Long Beach, CA 90807 and Oral Genetics Allen C. Crocker University of Minnesota School of Dentistry Children's Hospital Medie<~lCenter *Present address unknown. Minneapolis, MN 55455 Boston, MA 02115 xiv Contributors

Harold E. Cross David A. Dolowitz John B. Erich Ophthalmology Division , Far, Nose and Throat Clinic of Utall Section of Publications Arizona University Medical Center Salt Lake City, UT 84105 Mayo Clinic Tucson, AZ 85724 Rochester, MN 55901 George N. Donnell Charlotte Cunningham-Rundles Children's Hospital Franz Escher Memorial Sloan-Kettering Cancer Center Los Angeles, CA 90027 Spezialarzt fur Ohren, Nascn-und New York, NY 10021 Halskrankheiten Marion P. Downs Lindenhofspital, Brcmgartenstr Helen Ollendorff Curth Division of Otolaryngology CH-30 12 Bern, Switzerland 35 East 84th Street University of Colorado Medical Center New York, NY 10029 Denver, CO 80220 Nylcs R. Eskritt* Albert A. Dahlberg Patrick J. Doyle John R. Esterly Department of Anthropology Departments of Pathology and Division of Otorhinolaryngology Zoller Memorial Clinic and Gynecology University of British of Chicago University of Chicago, The Pritzker School Vancouver, B.C. Canada Chicago, IL 60637 of Medicine Joseph Dancis Edward Dreseher:j: Chicago, IL 6063 7 Department of Pediatrics Paolo David A. Price Evans New York University School of Medicine Durand Third Department of Pediatrics Department of Medicine New York, NY 10016 Giannina Gaslini Institute University of Liverpool Murray Davidson Genova, Quarto, Italy Liverpool, England L69 3BX Department of Pediatrics Arndt J. Duvall, III John A. Ewing Bronx Lebanon Hospital Center Department of Psychiatry Department of Otolaryngology Bronx, NY 10457 University of North Carolina School University of Minnesota Health Sciences of Medicine R. G. Davidson Center Chapel Hill, NC 27 514 Department of Pediatrics Minneapolis, MN 55455 McMaster University Harold F. Falls Jesse E. Edwards Hamilton, Ontario, Canada L8S 4J 9 Department of Ophthalmology Department of Pathology and Clinical Franklin DeBusk University of Michigan Hospitals Laboratory Department of Pediatrics Ann Arbor, MI 48104 United Hospitals University of Florida College of Medicine St. Paul, MN 55102 Blaise E. Favara Gainesville, FL 32610 Children's Hospital Lorentz Etdjarn Leslie J. DeGroot Denver, CO 80218 Institute of Clinical Biochemistry Department of Medicine University of Oslo, Rikshospitalet Murray Feingold University of Chicago, The Pritzker School Oslo, Norway Tufts-New England Medical Center of Medicine Boston, MA 02111 Chicago, IL 60637 Larry P. Elliott Division of Cardiovascular Radiology Nicholas R. Dennis Moshe Feinmesser University of Alabama Medical Center MRC Clinical Geneti€s Unit Department of Otolaryngology Birmingham, AL 35233 Institute of Child Health Hadassah University Hospital London, England WClN IEH Elliot F. Ellis Jerusalem, Israel Department of Pediatrics Eugene L Derlacki R. Storey Fenton Children's Hospital 55 East Washington Street Department of Otolaryngology Buffalo, NY 14222 Olicago, JL 60602 St. Michael's Hospital Robert J. Desnick Robert M. Ellsworth Toronto, Ontario, Canada MSB 1 W8 Department of Pediatrics EdwardS. Harkness Eye Institute Malcolm A. Ferguson-Smith Mount Sinai School of Medicine New York, NY 10032 Royal Hospital for Sick Children New York, NY 10029 Yorkhill Nabil I. Elsahy Loren T. DeWind Glasgow, Scotland G3 8SJ 315 Boulevard, N.E. 9819 Paramount Blvd. Atlanta, GA 30312 Robert M. Fineman Downey, CA 90240 Department of Pediatrics Uebe Sokol Diamond Eric Engel University of Utah College of Medicine 833 Park Avenue Dept. of Medicine/Genetics Division Salt Lake Oty, UT 84132 Vanderbilt University Hospital Baltimore, MD 21201 Delbert A. Fisher Nashville, TN 37232 Harbor General Hospital Louis K. Diamond Torrance, CA 90509 Department of Pediatrics Gerald M. English 1666 S. University Boulevard University of California San Francisco Denver, CO 80210 School of Medicine San Francisco, CA 94143 :j:Deceased. *Present address unknown. Contributors xv

Naomi Fitch George Gaethe John W. Gittinger Lady Davis Institute for Medical Research 3439 Prytania Street Department of Ophthahnology of Jewish General Hospital New Orleans, LA 70115 Tufts University School of Medicine Montreal, Quebec, Canada H3T 1E2 Boston, MA 02111 Gordon M. Folger, Jr. Stephen L. Gans 2080 Century Park East Richard Gitzelmann Department of Pediatric Cardiology Los Angeles, CA 90067 Laboratory for Metabolic Research Henry Ford Hospital . University Pediatric Department Detroit, MI 48202 David W. Gardner Kinderspital Eric W. Fonkalsrud Department of Medicine 8032 Zurich, Switzerland Department of Pediatric Surgery University of Missouri School of UCLA Medical Center Medicine Morton F. Goldberg Department of Ophthalmology Los Angeles, CA 90024 Columbia, MO 65201 Illinois Eye and Infirmary Sidney A. Fox Richard A. Gatti Chicago, IL 60612 Department of Ophthalmology Departments of Pediatrics, Oncology & Robert Goltz New York University School of Medicine Immunology Department of Dermatology New York, NY 10016 Cedars~SinaiMedical Center University of Minnesota Medical School, Uta Francke Los Angeles, CA 90048 Minneapolis Department of Pediatrics Minneapolis, MN 55455 Yale University School of Medicine Robert N. Gebhart UCLA Medical Center New Haven, CT 06510 Robert A. Good Los Angeles, CA 90024 Donald Fraser Memorial Sloan-Kettering Cancer Center Departments of Pediatrics and Physiology William C. Gentry, Jr. New York, NY 10021 The Research Institute Dept. of Dermatology Richard M. Goodman Hospital for Sick Otildren University of Minnesota Medical School, Department of Human Genetics Toronto, Ontario, Canada Minneapolis Tel Aviv University Medical School F. Qarke Fraser Minneapolis, MN 55455 Tei~Hashomer,Israel Department of Biology James L. German, III Stephen I. Goodman McGill University Laboratory of Human Genetics Department of Pediatrics Montreal, Quebec, Canada H3C 3Gl The New York Blood Center University of Colorado Medical Center G. R. Fraser New York, NY 10021 Denver, CO 80220 Faculty of Medicine Thee Gerritsen Memorial University of Newfoundland Thomas F. Goodman, Jr. Organization for Health Research TNO St. John's, Newfoundland, Canada A1C5S7 501 Stratford Dr. The Hague, The Netherlands Augusta, GA 30904 Joseph F. Fraumeni, Jr. Epidemiology Branch Ira H. Gessner W. S. Goodman National Cancer Institute Department of Pediatrics (Cardiology) Department of Otolaryngology Bethesda, MD 20014 University of Florida College of Medicine University of Toronto Gainesville, FL 32610 Donald S. Fredrickson Toronto 2, Ontario, Canada Molecular Disease Branch H. Ghadimi Robert J. Gorlin National Institutes of Health 3612 Bertha Dr. Division of Oral Pathology Bethesda, MD 20014 Baldwin, NY 11510 University of Minnesota School of John Mark Freeman Dentistry The Johns Hopkins University School Samuel T. Giammona Minneapolis, MN 55455 of Medicine Department of Pediatrics Baltimore, MD 21205 Children's Hospital of San Francisco Thomas P. Graham, Jr. San Francisco, CA 94119 Bert C. Frichot, Ill Division of Pediatric Cardiology Vanderbilt University Medical Center University of Nebraska Elobe R. Giblett Nashville, TN 37232 Omaha, NE 68105 King County Central Blood Bank, Inc. William F. Friedman Seattle, WA 98104 Jay L. Grosfeld Department of Pediatrics Department of Surgery University Hospital Ronald E. Gier Indiana University Medical Center San Diego, CA 92110 Department of Oral Diagnosis University of Missouri School of Indianapolis, IN 46202 George W. Frimpter Dentistry Veterans Administration Hospital Juan R. Guerrero Kansas City, MO 64108 7400 Merton Minter Blvd. Squibb Institute for Medical Research Princeton, NJ 08540 San Antonio, TX 78284 Enid F. Gilbert E. R. Froesch Department of Pathology Paul Guggenheim Rcnggerstrasse 31 University of Wisconsin Medical School Mid~Valley Medical Center 8000 Zurich, Switzerland Madison, WI 53706 Simi Valley, CA 93065 xvi Contributors

Sudhir Gupta Richard E. Hillman Kent F. Jacobs* Memorial Sloan-Kettering Cancer Center Division of Medical Genetics EgilJenum New York, NY 10021 Washington University School of Medicine Institute of Oinical Biochemistry St. Louis, MO 63110 P. John Hagan University of Oslo, Rikshospitalet The ENT Surgical Group Raymond L Hintz Oslo 1, Nor way Kingston, PA 18704 Department of Pediatrics Jan E • .lir:isek N. A. Halasz Stanford University School of Medicine Institute for the Care of Mother & Child Department of Surgery Stanford, CA 94305 Prague-Podoli, Czechoslovakia University of California, San Diego Sljlve Hognestad School of Medicine Ointon C. Johnson Horselsscntralen, St. Franciscus Hospital La Jolla, CA 92037 Dental Service 4000 Stavanger Veterans Administration Hospital Judith G. Hall Norway Dallas, TX 75216 Department of Medical Genetics Thomas M. Holder Dale G. Johnson Children's Orthopedic Hospital & 4400 Broadway Department of Surgery Medical Center Seattle, WA 98105 Kansas City, MO 64111 Primary Children's Hospital Salt Lake City, UT 84103 James W. Hanson Paul H. Holinger Department of Pediatrics 700 N. Michigan Avenue Waine C. Johnson Department of Dermatology University of Iowa Hospitals & Clinics Chicago, lL 60611 Iowa City, lA 52242 The Skin and Cancer Hospital David W. Hollister Philadelphia, PA 19140 B. Hardcastle Departments of Pediatrics and Medicine 2240 N. W. 19th Lane Harbor General Hospital William J. Johnson Gainesville, FL 32605 Torrance, CA 90509 Department of Internal Medicine Mayo Clinic Robert H. A. Haslam Lewis B. Holmes Rochester, MN 55901 Division of Pediatrics Genetics Unit Paul W. Johnston University of Calgary The Massachusetts General Hospital 50 Bellefontaine St. Alberta, Canada T2N 1N4 Boston, MA 02114 Pasadena, CA 91105 Newlin Hastings Richard Hong Kenneth Lyons Jones 1136 W. 6th Street Department of Pediatrics Clinical Research Center, AID Los Angeles, CA 90017 University of Wisconsin Medical School University Hospital Frederick T. Hatch Madison, WI 53706 San Diego, CA 92103 Lawrence Livermore Laboratory George R. Honig Ronald J. Jorgenson University of California Department of Hematology Department of Pediatric Dentistry Livermore, CA 94550 The Children's Memorial Hospital Medical University of South Carolina Charleston, SC 29401 Irvin F. Hawkins, Jr. Chicago, IL 60614 Department of Radiology Herbert L. Joseph William A. Horton University of Florida College of Medicine 1516 Napa Street Department of Medicine Gainesville, F L 3 261 0 Vallejo, CA 94590 Kansas University Medical Center Daniel M. Hays Kansas City, KS 66103 Richard C. Juberg Children's Hospital of Los Angeles Children's Medical Center Los Angeles, CA 90054 Jack Van Doren Hough Dayton, OH 45404 3400 N.W. 56th Street James R. Hayward Oklahoma City, OK 73112 Ilkka 1. Kai tila Department of Oral Surgery Children's Hospital University of Michigan Medical Center Carolyn D. Hudson University of Helsinki Ann Arbor, MI 48104 Department of Oral Medicine & Pathology Helsinki, Finland SF·00290 Guy's Hospital Dental School Frederick Hecht London, England SEl 9RT Southwest Biomedical Research Hans Kalmus Institute Galton Laboratory Tempe, AZ 85281 Irene Husscls-Maumenee University College London The Wilmer Institute London, England WC1 William E. Hellenbrand The Johns Hopkins Hospital Department of Pediatrics Baltimore, MD 21205 Harry Irving Katz Yale University School of Medicine 4001 Stinson Blvd., NE New Haven, Cf 06510 Agnes M. Ickenroth Minneapolis, MN 55421 J iirgen Herrmann Department of Human Genetics Department of Pediatrics University of Nijmegen Dennis Kay University of Wisconsin Medical School The Netherlands Division of Otolaryngology Madison, WI 53706 University of Colorado Medical Center Donald Imbrie Denver, CO 80220 Victor H. Hildyard Department of Otolaryngology Colby Clinic University of Oregon Medical School Colby, KS 67701 Portland, OR 97201 *Present address unknown. Contributors xvii

B. H. Kean Normand Lapointe Victor A. McKusick Department of Medicine Department of Immunology Department of Medicine Cornell University Medical Center HOpital Sainte Justine T11e Johns Hopkins University New York, NY 10021 Montreal, Quebec, Canada H3T lCS School of Medicine Baltimore, MD 2 1205 Harris J. Keene Cari-Bertil Laurel! Oral Oncology Department of Clinical Chemistry Dan G. McNamara University of Texas University of Lund Section of Cardiology The Health Science Center at Houston S-214 01 MalmO, Sweden Texas Children's Hospital Medical School Houston, TX 77030 Benjamin C. Leadholm Houston, TX 77025 Division of Otolaryngology Ellen Magenis Gordon G. Keyes University of Colorado Medical Center Department of Medical Genetics Department of Oral Pathology Denver, CO 80220 University of Oregon Medical School West Virginia University Portland, OR 97201 Morgantown, WV 26506 Robert S. Lees Clinical Research Center l"lhilip M. Marden Anne C. Kimball Massachusetts Institute of Technology 340 F. Summit Avenue Department of Medicine Cambridge, MA 02139 Oconomowoc, WI 5 3066 Cornell University Medical College New York, NY 10021 L. Stefan Levin Pierre Maroteaux Department of Otolaryngology Assistant Medical Biologist Stanley E. Kirkpatrick The Johns Hopkins University School of Hbpital des Enfants !\1alades Department of Pediatrics 75730 Pari~,('cdcx 15 France University Hospital Medicine MD 21205 San Diego, CA 92110 Baltimore, Henry J. L. Marriott Department of Clinical Research Kitano Robert I. Levy Yukio St. Anthony's Hospital Department of Derma to logy Molecular Disease Branch St. Petersburg, FL 33705 University of Osaka National Heart and Lung Institute l·ukushimaku, Osaka, Japan Bethesda, MD 20014 Yoshinobu Masuda 323-47 Mizonuma Marion A. Koerpcr Jack R. Lichtenstein Asaka~shi,Saitama-ken Department of Pediatrics Washington University School of Medicine Japan University of California, San Francisco St. Louis, MO 63110 School of Medicine Roland S. Medansky San Francisco, CA 94143 Leonard M. Linde 1600 Dempster Los Angeles Pediatric Cardiology !vfedical Maurice D. Kogut Park Ridge, lL 60068 Group, Inc. Children's Hospital 10921 Wilshire Blvd. Amir H. Mehregan Los Angeles, CA 90027 Los Angeles, CA 90024 415 S. Monroe Street Alfried Kohlschtitter Monroe, MI 48161 Univcrsitatskinderklinik Russell V. Lucas, Jr. D-34 Gottingen, Germany Department of Cardiology Marvin C. Mengel University of Minnesota Medical 115 W. Columbia Street Robert l. Kohut School, Minneapolis Orlando, F L 3 2806 Department of Surgery Minneapolis, MN 55455 University of California, Irvine, William C. Mentzer, Jr. College of Medicine Thomas J. McCarter Department of Pediatrics Hospital Irvine, CA 92664 1514 White Bear Avenue San Francisco General San Francisco, CA 94110 Bruce W. Konigsmark t St. Paul, MN 55106 K. S. Kozlowski Lawrence Meskin Wallace W. McCrory Department of Health Ecology Staff Radiologist Department of Pediatrics University of Minnesota School of Dentistry Royal Alexandra Hospital for Children Cornell University Medical College Minneapolis, MN 55455 Sydney, Australia 2050 New York, NY 10021 Alex E. Krill:j: Louise Brearley Messer Barbara J, McGee Department of Pediatric Dentistry Saul Krugman AA-5218 Medical Center University of Minnesota School of Dentistry Department of Pediatrics Vanderbilt University Hospital Minneapolis, MN 55455 New York University Medical Center Nashville, TN 37232 New York, NY 10016 Irving Meyer 40 Maple Street Ralph S. Lachman Guy M. McKhann Springfield, MA 0 II 03 Department of Radiology Department of Neurology University Harbor General Hospital The Johns Hopkins George R. Mikhail Torrance, CA 90509 School of Medicine Department of Dermatology Baltimore, MD 21205 Leonard 0. Langer, Jr. Henry Ford Hospital Detroit, MI 48202 Department of Radiology David H. McKibben, Jr. University of Wisconsin Cleft Research Center B. Lynn Miller Medical Center University of Pittsburgh School of Medi- Department of Pediatrics (Cardiology) Madison, Wl53706 cine University of Florida College of Medicine :j:Deceased. Pittsburgh, PA 15261 Gainesville, F L 3 2610 xviii Contributors

Daniel R. Miller Charles E. Mullins Richard J. O'Reilly Ear, Nose & Throat-Facial Plastic Surgery SectiOn of Pediatric Cardiology Memorial Sloan-Kettering Cancer Center 3316 Fourth Street Texas Children's Ho~pital New York, NY 10021 Lewiston, JD 83501 Houston, TX 77030 Eduardo Orti Michael E. Miller Roger E. M urken Department of Pediatric~ Department of Pediatric Immunology 1067 Bowdain Ave. State University of New York University of California School of Medicine St. Paul, MN 55116 Downstate Medical Center Torrance, CA 90509 Brooklyn, NY 11203 Walter E. Nance Orlando J. Miller Department of Human Genetics John Q. Owsley, Jr. Department of Obstetrics & Gynecology & Medical College of Virginia Franklin Medical Center Human Genetic~& Development Richmond, VA 23298 San Francisco, CA 94114 Columbia University College of Physicians Lewis N. Neblett & Surgeons Savita Paltwa New York, NY 10032 1211 S. Glenstone St. Department of Immunology Springfield, MO 65804 Memorial-Sloan-Kettering Cancer Center Robert H. Miller Division of Pediatric Cardiology Gerhard Neuhauser New York, NY 10021 University Hospital of Jacksonville Kinderklinik Univcrsitat A- D. Patrick Jacksonville, FL 32209 Loschgestrasse 15 Institute of Child Health D-85 20 Erlangen University of London Robert W. Miller West Germany 402 Federal Building London, England WCl N IEH National Cancer Institute Robert C. Newell Milton H. Paul Bethesda, MD 20014 Bellingham Medical Center Division of Cardiology Bellingham, WA 98225 Stephen H. Miller The Children's Memorial Hospital Department of Surgery Buford L. Nichols Chicago, IL 60614 Hershey Medical Center Baylor University Hershey, PA 17033 College of Medicine Carl M. Pearson Houston, TX 77030 Division of Rheumatology David T. Mininberg UCLA School of Medicine New York Medical College Audrey H. Nora Los Angeles, CA 90024 New York, NY 10029 Department of Pediatrics University of Colorado Medical Center Thomas L. Perry Narla Mohandas Denver, CO 80220 Department of Pharmacology Cancer Research Institute University of British Columbia University of California Medical Center James J. Nora Vancouver, Canada San Francisco, CA 94143 Department of Pediatric Cardiology University of Colorado Medical Center Udo Pfiindler James H. Moiler Denver, CO 80220 Faculty of Medicine Division of Pediatric Cardiology University of Berne University of Minnesota, Medical Robert A. Narum Berne, Switzerland School, Minneapolis Division of Medical Genetics Minneapolis, MN 55455 Cornell University Medical College Rudolf A. Pfeiffer New York, NY I 0021 Institut fur Humangenetik Merle E. Morris Ratzeburger Allee 160 Division of Pedodontics William L. Nyhan 24 Lubeck University of California School of Dentistry Department of Pediatrics Federal Republic of Germany San Francisco, CA 94143 University of California, San Diego, School of Medicine Michel Philippart Grant Morrow, Ill La Jolla, CA 92037 Neuropsychiatric Institute Department of Pediatrics University of California, Los Angeles, University of Arizona School of Medicine Samuel Scott Obenshain School of Medicine Tucson, AZ 85724 Department of Pediatrics Los Angeles, CA 90024 Edmund J. Moynahan University of New Mexico School of Lawrence K. Pickett Department of Dermatology Medicine Department of Surgery Guy's Hospital Albuquerque, NM 87106 Yale University School of Medicine London, SE 1, England JohnS. O'Brien New Haven, CI 06510 Thomas J. Muckle Department of Neurosciences Director of Laboratories University of California, San Diego, V. K. Pillay McMaster University Medical School School of Medicine Orthopaedic Surgery, Singapore Polyclinic Republic of Singapore Hamilton, Ontario, Canada L8N 3L6 La Jolla, California 92037 Sigfrid A. Muller John M. Opitz Steven M. Podos Department of Dermatology Department of Genetics Department of Ophthalmology Mayo Clinic University of Wisconsin Medical School Washington University School of Medicine Rochester, MN 55901 Madison, WI 53706 St. Louis, MO 63110 Contributors xix

George Polgar Donald A. Riopel Joseph D. Schulman Department of Physiology Division of Pediatric Cardiology National Institute of Child Health & University of Pennsylvania School of Medical University of South Carolina Human Development Medicine Charleston, SC 29401 National Institutes of Health Philadelphia, PA 19104 Meinhard Robinow Bethesda, MD 20014 Philip Posner Department of Pediatrics Robert Schwartz Department of Physiology University of Virginia Medical Center Department of Pediatric Metabolism University of Florida College of Medicine Charlottesville, VA 22901 Rhode Island Hospital Gainesville, FL 32610 Providence, RI 02902 Leon E. Rosenberg Marilyn Preus Departments of Human Genetics, Stanley A. Scltwartz Department of Medical Genetics Pediatrics and Medicine Memorial Sloan-Kettering Cancer Center The Montreal Children's Hospital Yale University School of Medicine New York, NY 10021 Montreal, Quebec, Canada H3H I P3 New Haven, CT 065IO Charles I. Scott, Jr. Bozidar Puretic:j: Nathaniel H. Rowe Department of Pediatrics Department of Oral Pathology Stefanija Puretic University of Texas Medical School Petrova 90 University of Michigan School of Houston, TX 77025 Dentistry 41000 Zagreb Yugoslavia Ann Arbor, Ml48104 Charles R. Scriver Jack H. Rubinstein Departments of Pediatrics & Biology Qutub H. Qazi Children's Neuromuscular The McGill University Department of Pediatrics Diagnostic Center Montreal, Quebec H3H 1P3, Canada State University of New York Cincinnati, OH 45229 Downstate Medical Center Heddie 0. Sedano Brooklyn, NY 11203 Raymond Saddi Department of Oral Pathology Maitre de Recherche CNRS University of Minnesota School of Elsa K. Ra1m University Cochin Dentistry Department of Ophthalmology Paris, XIV France Minneapolis, MN 55455 Nassau County Medical Center East Meadow, NY 11554 Inge Sagel Victor J. Selmanowitz New York Medical College Satish R. Rao Orentreich Foundation for the New York, NY l 0029 Department of Pediatric Dentistry Advancement of Science Medical University of South Carolina lsamu Sando New York, NY 10021 Charleston, SC 29401 Department of Otopathology larry J. Shapiro University of Pittsburgh School of Gerald M. Reaven Department of Medical Genetics Medicine Stanford University School of Medicine Harbor General Hospital Pittsburgh, PA 15213 Stanford, CA 94305 Torrance, CA 90509 John J. Sauk, Jr. Robert S. Redman Carol S. Shear Department of Human and Oral V. A. Hospital University of Miami Mailman Center for Genetics Denver, CO 80220 Child Development University of Minnesota Medical School, Miami, FL 33152 William B. Reed :j: Minneapolis Samuel Refetoff Minneapolis, MN 55455 Madoka Shibuya Department of Medicine Georges Schapira New York Hospital Cornell University University of Chicago, The Pritzker School Universite de Paris Medical Center of Medicine Institut de Pathologic Moleculaire New York, NY 10021 Chicago, IL 60637 Paris, XIV France Henry R. Shinefield William Reichel I. Herbert Scheinberg Kaiser Foundation Hospital Franklin Square Hospital Albert Einstein College of Medicine San Francisco, CA 94119 9000 Franklin Square Drive Bronx, NY 10461 Baltimore, MD 21237 Stephen B. Shohet Gerold L. Schiebler Cancer Research Institute J. Sidney Rice Department of Pediatrics University of California 1205 North Center Street University of Florida College of Medicine San Francisco, CA 94143 Hickory, NC 28601 Gainesville, FL 32610 Kenneth Shulman Thomas A. Riemenschneider R. Neil Schimke Department of Neurological Surgery Department of Pediatrics Dept. of Medicine and Pediatrics Albert Einstein College of Medicine University of California at Davis University of Kansas Medical Center Bronx, NY 10461 Sacramento Medical Center Kansas City, KS 66103 Sacramento, CA 95817 Jerry A. Schneider James B. Sidbury, Jr. David L. Rimoin Department of Pediatrics National Institute of Child Health Department of Pediatrics University of California, San Diego and Human Development Harbor General Hospital School of Medicine NIH Torrance, CA 90509 La Jolla, CA 92037 Bethesda, MD 20014 xx Contributors

William K. Sieber Madison S. Spach H. Eldon Sutton 3500 Fifth A venue Division of Pediatric Cardiology Department of Zoology Pittsburgh, PA 15213 Duke University Medical Center University of Texas Durham, NC 27710 Austin, TX 78712 David C. Siggers Department of Child Health Mark A. Sperling T. Sveger Southampton General Hospital Endocrinology Division Department of Clinical Chemistry Southampton, S09 4XY, England 01ildren's Hospital Medical Center University of Lund Cincinnati, OH 45 229 S-214 01 MalmO, Sweden Henry K. Silver Department of Pediatrics Jtirgen W. Spranger Lawrence Sweetman University of Colorado Medical Center Department of Pediatrics Department of Pediatrics Denver, CO 80220 University Kinderklinik University of California, San Diego 65 Mainz, Germany School of Medicine Frederic N. Silverman La Jolla, CA 92037 Department of Radiology Arthur G. Steinberg Stanford University Medical Center Chester A. Swinyard of Biology Stanford, CA 94305 Department Visiting Professor Emeritus of Surgery Western Reserve University School Case The Children's Hospital at Stanford of Medicine Olli G. Simell Palo Alto, CA 94304 Children's Hospital Cleveland, OH 44106 University of Helsinki Norman S. Talner Steinberg Helsinki SF-00290, Finland Daniel Departmellt of Pediatrics Department of Metabolic Disease Yale University School of Medicine Joe Leigh Simpson University of California, San Diego New Haven, CT 06510 Department of Obstetrics and Gynecology School of Medicine Northwestern University School of La Jolla, CA 92037 Samia A. Temtamy Medicine Department of Human Genetics Chicago, IL 60611 Sandra Stenmark National Research Centre Children's Hospital Dokki, Cairo, Egypt John Simpson Denver, CO 80218 Birth Defects Information Office Thomas M. Teree 1720 7th Ave. South Roger E. Stevenson Department of Pediatrics Birmingham, AL 35233 Greenwood Genetics Center Baystate Medical Center Greenwood, SC 29646 Springfield, MA 01107 William Singer Department of Pediatric Neurology Janet M. Stewart Darrell L. Teter New England Medical Center Hospital Department of Pediatrics 6850 East Hampden Ave. Boston, MA 02111 University of Colorado Medical Center Denver, CO 80222 Denver, CO 80220 G. T. Singleton E. George Thorne West 8th Ave. & Cherokee Street Shands Teaching Hospital Stokke Oddvar Denver, CO 80204 University of Florida College of Medicine University of Oslo Gainesville, FL 32610 Institute of Clinical Biochemistry Paul M. Tocci of Miami School of Medicine Howard R. Sloan* Oslo, Norway University Miami, FL 33152 Smith Orville J. Stone David W. Kathleen Toomey Department of Pediatrics Division of Dermatology Department of Pediatrics The University of Washington School of University of California, Irvine California College of Medicine University of South Florida College Medicine of Medicine WA 98105 Irvine, CA 92664 Seattle, Tampa, FL 33612 Lotte Strauss Morton E. Smith J. Touloukian Mount Sinai School of Medicine Robert Department of Ophthalmology Department of Surgery New York, NY 10029 Washington University School of Yale University School of Medieine Medicine Joel Sugar New Haven, CT 06510 St. Louis, MO 63110 Department of Ophthalmology Oscar Touster Raymond 0. Smith, Jr. University of Illinois Hospital Department of Molecular Biology Department of Otolaryngology IL 60612 Chicago, Vanderbilt University Oklahoma Medical Center Nashville, TN 37203 Oklahoma City, OK 73104 Mai Park Suhr Elizabeth M. Smithwick 240 Sleepy Hollow Terrace John N. Trodahl Memorial Sloan-Kettering Cancer Center Glendale, CA 91206 Oral Disease Research Laboratory New York, NY 10021 V. A. Hospital Robert L. Summitt Houston, TX 77211 Selma Snyderman Departments of Pediatrics, Anatomy Department of Pediatrics and Child Development Donald P. Tschudy New York University School of Medicine University of Tennessee Center for National Institutes of Health New York, NY 10016 The Health Sciences Clinical Center *Present address unknown. Memphis, TN 38163 Bethesda, MD 20014 Contributors xxi

Jouni Uitto Dorothy Warburton Robert L. Williams Division of Medical Genetics Department of Human Genetics and Section of Pediatrics Washington University School of Medicine Development Texas Children's Hospital St. Louis, MO 64110 Columbia University College of Houston, TX 77030 Physicians and Surgeons Robert A. Ulstrom R. S. Wilroy, Jr. New York, NY 10032 University of Minnesota Medical School, Department of Pediatrics Minneapolis Paul H. Ward University of Tennessee Center for Minneapolis, MN 55455 Department of Surgery Tiu:: Health Sciences UCLA School Memphis, TN 38163 Paul R. Vandersteen of Medicine Los Angeles, CA 90024 Department of Dermatology Charles J. Wilson hugo Clinic Josef Warkany 200 University Boulevard Fargo, ND 5 81 02 Department of Research Pediatrics Galveston, TX 77550 The Children's Hospital Research A.M. L. II. S. Van Mierop Winchester Foundation Department Department of Pediatrics (Cardiology) of Biological Sciences Cincinnati, OH 45229 College of & University of Florida College of Medicine Arts Sciences Gainesville, FL 32610 Edward Wasserman University of Northern Colorado Department of Pediatrics Greeley, CO 80631 Thomas A. Vargo New York Medical College Carl J. Witkop, Jr. Division of Pediatric Cardiology New York, NY 10029 Division of Human and Oral Genetics Baylor College of Medicine University of Minnesota School of Houston, TX 77025 David G. Watson Dentistry University of Mississippi Medical Center Minneapolis, MN 55455 William F. Via, Jr. Jackson, MS 39216 Department of Oral Diagnosis Mitchel L. Wolf University of North Carolina School William Watson Department of Ophthalmology Department of Dentistry of Dermatology Washington University School of 01apel Hill, NC 27514 Stanford University Medical Center Medicine Stanford, CA 94305 St. Louis, MO 63110 Robert A. Vickers Department of Oral Pathology Gary L. Way Raymond P. Wood, II Department of Pediatric Cardiology University of Minnesota School of Department of Otolaryngology Dentistry University of Colorado Medical Center University of Colorado Medical Center Minneapolis, MN 55455 Aurora, CO 8001 1 Denver, CO 80220 William B. Weil, Morton M. Woolley Benjamin E. Victorica Jr. Department of Human Development Children's Hospital of Los Angeles Department of Pediatric~(Cardiology) Michigan State University Los Angeles, CA 90027 University of Florida College of Medicine Gainesville, FL 32610 East Lansing, MI 48823 H. M. Worth Bernd Weinberg Department of Medicine and Radiology University William B. Wadlington Audiology and Speech Sciences of British Columbia 2614 Old Lebanon Road Purdue University Vancouver 8, B.C. Canada Nashville, TN 37214 West Lafayette, IN 4 7906 Herman E. Wyandt Department of Pediatrics Benjamin T. Wells Thomas A. Waldmann University of Virginia 411 West 21st Street Medical Center Department of Metabolism Charlottesville, VA 22901 National Cancer Institute Houston, TX 77008 Bethesda, MD 20014 Sonja R. Wyss Walter Weyler, Jr. Medizinisch-Chemischcs Jnstitut Charles A. Waldron Department of Pediatrics der Universitat Bern University of California, Department of Oral Pathology San Diego 3000 Bern, Switzerland School of Medicine Emory University School of Dentistry La Jolla, CA Patricia S. Zelkowitz Atlanta, GA 30322 92093 Burgess Hospital James G. White 1521 Gull Road Paul 0. Walker Department of Pediatrics Department of Pedodontics Kalamazoo, MI 49001 llniversity of Minnesota Medical School, University of Minnesota School of Hans Zellweger Minneapolis Dentistry Department of Pediatrics Minneapolis, MN 55455 Minneapolis, MN 55455 University of Iowa College of Medicine Peter F. Whitington Iowa City, lA 52240 I. S. Wallman Department of Pediatrics 111 Barker Road William H. Zinkham University of Wisconsin Medical School Subiaco, Australia 6008 The Johns Hopkins University Madison, WI 53706 School of Medicine Diane W. Wara L. S. Wildervanck Baltimore, MD 21205 Department of Pediatrics Department of Human Genetics Jonathan Zonana University of California, San Francisco State University Groningen Division of Medical Genetics School of Medicine Antonius Deusinglaan 4 Harbor General Hospital San Francisco, CA 94143 Groningen, Holland Torrance, CA 90509 Contents Section I Atlas

Figure Page Figure Page 1. Normal disk and vessels.. I 46. Anterior polar cataract, moderate. 10 2. Normal disk, vessels and macula . I 47. Iris coloboma ...... II 3. Drusen of optic nerve head. I 48. Albinism of iris and skin...... II 4. Drusen of macula . I 49. Keratoconus .. II 5. Small retinal coloboma ... 2 50. Keratoglobus II 6. Coloboma of disk. 2 51. Conjunctival melanosis in Negro .... . II 7. Large coloboma of macula . 2 52. Argyrosis of conjunctiva and eyelids ...... II 8. Severe coloboma of disk and macula 2 53. Heterochromia ...... 12 9. Choroideremia .... 3 54. Microphthalmia with pupillary abnormality 10. Choroidal nevus . 3 and heterochromia ...... 12 11. Ectopic macula .. . 3 55. Cystinosis as seen in corneal stroma . 12 12. Retinal fold ... . 3 56. Neurofibromatosis of upper eyelid .. 12 13. Epipapillary membrane...... 4 57. Kayser-Fleischer ring ...... 12 14. Congenital pit of optic nerve .. 4 58. Sunflower cataract 12 15. Myelinated nerve fibers .. 4 59. Aniridia ...... 13 16. Astrocytoma of retina 4 60. Retinoblastoma ... . 13 17. Aberrant congenital venous loop 4 61. Lens subluxated downward 18. Retinal vessel tortuosity in sickle cell 62. Lens subluxated upward 13 hemoglobinopathy ...... 4 63. Inverse epicanthal fold ...... 14 19. Normal macula of patient with retinitis pigmentosa. 5 64. Horner syndrome with heterochromia ...... 14 20. Optic disk and vessels of patient with retinitis 65. Heterochromia and iris coloboma .. 14 pigmentosa ...... 5 66. Dermoid cyst of orbit ...... 14 21. Retinitis pigmentosa in mid periphery. 5 67. Epibulbar dermoid ...... 14 22. Retinitis pigmentosa, dense ...... 5 68. Unilateral congenital glaucoma. 14 23. Pseudo xanthoma elasticum and angioid streak. 5 69. 21 trisomy syndrome . 14 24. Tay-Sachs disease as seen in retina ... 5 70. Bloom syndrome...... 14 25. Acute chorioretinitis, toxoplasmic . 6 71. Ochronosis ...... 15 26. Healed chorioretinitis, toxoplasmic 6 72. Hairy pinna .. 15 27. Microphakia ...... 6 73. , type I with preauricular appendage. 15 28. Rubella nuclear cataract .. . 6 74. Microtia, type II ...... 15 29. Sickle cell anemia as seen in retina . 7 75. Microtia, type III with auricular appendage .. . 15 30. Polycythemia vera as seen in retina 7 76. Microtia, type III and polyotia ...... 15 31. Albinism as seen in retina ..... 7 77. Aural exostosis. 15 32. Congenital retinal telangiectasia .. 7 78. Primary cholesteatoma of middle ear. 15 33. Vitelliruptive macular degeneration .. 8 79. Gustatory sweating ...... 15 34. Tuberous sclerosis as seen in retina .. 8 80. and yellow staining from 35. von Hippel-Lindau syndrome as seen in retina 8 tetracycline 16 36. Melanocytoma ...... 8 81. Incisors, shovel-shaped. 16 37. Retinal fold, developmental ... 9 82. Dentinogenesis imperfecta ..... 16 38. Heterochromia, partial .... 9 83. Pegged teeth .. 16 39. Cloudy cornea in congenital glaucoma .. 9 84. Jntraepithelial dyskeratosis ...... 16 40. Acute angle closure glaucoma. 9 85. Odontodysplasia...... 16 41. Asteroid hyalitis .. 10 86. Fused lateral and central incisor . 17 42. Cytoid bodies ...... 10 87. Geminated primary lateral incisors 17 43. Cataract zonularis .... . 10 88. Erythropoietic porphyria .. 17 44. Corneal dystrophy, granular ... . 10 89. Gingival fibromatosis .. 17 45. Anterior polar cataract, small ...... 10 90. Cleft uvula ...... 17

xxiii xxiv Atlas

91. Submucous cleft of soft and hard palate 17 102. Yellow-mutant Caucasian albino .. 19 92. Fabry disease as seen on conjunctiva. 18 103. Tyrosinase-negative Caucasian albino . 19 93. Nasopharyngeal stenois .... 18 104. Hermansky-Pudlak syndrome ...... 19 94. Lingual thyroid .. 18 105. Microphthalmic-depigmented child with 95. Vitiligo on upper eyelid and poliosis. 18 Cross syndrome ...... 19 96. Thyroglossal duct cyst. 18 106. a-Thalassemia (hemoglobin H disease) . 19 97. Microphthalmia, esotropia and hypoplasia 107. I)-Thalassemia trait . 19 of nose with single nostril. 18 108. Sickle cell anemia .. 19 98. Keratoacanthoma1,. 18 109. Normal eye. 20 99. . 18 110. Normal pinna and nomenclature, microtia by 100. Hemangioma . 18 type, and . 21 101. Tyrosinase-positive Caucasian albino. 19 Section II Compendium

Birth Defects Number and Name l Aarskog syndrome 44 Amelo-cerebro-hypohidrotic syndrome 2 Abetalipoproteincmia 45 Amelo-onycho-hypohidrotic syndrome 3 Ablepharon 46 4 Abnormal fibrinogens 4 7 Analbuminemia 5 Acanthosis nigricans 48 Analphalipoproteinemia 6 Acatalasemia 49 Androgen insensitivity syndrome, complete 7 Acetylator polymorphism (Marker) 50 Androgen insensitivity syndrome, incomplete 8 A chondrogenesis, Langer-Saldino type 51 Anemia, hypoplastic congenital 9 A chondrogenesis, Parenti-Fraccaro type 52 Anencephaly 10 Achondroplasia 53 Aneurysm of aortic sinus of Valsalva 11 Acid maltase deficiency 54 Angioedema, hereditary 12 Acoustic neuromata 55 Angio-osteohypertrophy syndrome 13 Acrocephalopolysyndactyly 56 Anhidrosis 14 Acrocephalosyndactyly 57 Aniridia 15 Acrodermatitis enteropathica 58 Anisocoria 16 Acrodysostosis 59 Anisometropia 17 Acrofacial dysostosis 60 Ankyloblepharon 18 Acromegaloid phenotype, cutis verticis and 61 gyratacornealleukoma 62 Annular pancreas 19 Acromesomelic dysplasia, Campailla- 63 Anomalous origin of contralateral subclavian artery Martinelli type 64 Anomalous origin of coronary arteries from 20 Acromesomelic dysplasia, Maroteaux type pulmonary artery 21 Aero-osteolysis, dominant type 65 Anonychia and ectrodactyly 22 Acropectorovertebral dysplasia 66 Anonychia, hereditary 23 Adrenal hypoaldosteronism of infancy, transient 67 Anophthalmia isolated 68 Anorchia 24 Adrenal hypoplasia, congenital 69 Anorectal malformations 2 5 Adrenocortical unresponsiveness to ACTH, 70 Anosmia, congenital hereditary 71 Antibodies to human allotypes (Markers) 26 Adrenocorticotropic hormone deficiency, isolated 72 Anus-hand-ear syndrome 27 Agammaglobulinemia, X-linked infantile 7 3 Aorta, coarctation 28 Agnathia, and synotia 7 4 Aortic arch, cervical 29 Agonadia 7 5 Aortic arch, double 30 Albinism-cutaneous and deafness 76 Aortic arch interruption 31 Albinism-cutaneous without deafness 32 AlbiniSm-ocular 77 Aortic arch, right 33 Albinism-oculocutaneous, Hermansky-Pudlak type 78 Aortic stenosis, supravalvar 34 Albinism-oculocutaneous, tyrosinase negative 79 Aortic valve atresia 35 Albinism-oculocutaneous, tyrosinase positive 80 Aortic valve stenosis 36 Albinism-oculocutaneous, yellow mutant 81 Aortic valve, tetracuspid 37 Alkaptonuria 82 Aortico-left ventricular tunnel 38 Alopecia areata 83 Aortico-pulmonary septal defect 39 Alpha1 -antitrypsin deficiency 84 Aphakia 40 Alpha-methyl-acetoacetic aciduria 85 Arachnodactyly, contractural 41 AlstrOm syndrome 8 6 Argininemia 42 Amastia 87 Argininosuccinic aciduria 43 Amaurosis congenita of Leber 8 8 Arthrogryposis xxvi Compendium

89 Arthrogrypotic hand anomaly and 151 Cholesteryl ester storage disease sensorineural deafness 152 Cholinesterase, atypical 90 Arthro-ophthalmopathy 153 Chondrodysplasia punctata, Conradi-HUnermann type 91 Asphyxiating thoracic dysplasia 154 Chondrodysplasia punctata, rhizomelic type 92 Asplenia syndrome 155 Chondrodystrophic myotonia 93 Ataxia-hypogonadism syndrome 156 Chondroectodermal dysplasia 94 Ataxia-telangiectasia 157 Chromosome eight trisomy syndrome 95 Atransferrinemia 158 Chromosome eighteen p- syndrome 96 Atrial septal defects 159 Chromosome eighteen q- syndrome 97 Auditory canal atresia 160 Chromosome eighteen trisomy syndrome 98 A uriculo-ost eod ysplasia 161 Chromosome eleven q- partial trisomy syndrome 99 Baldness, common 162 Chromosome eleven q- syndrome 100 Bartter syndrome 163 Chromosome five p- syndrome 101 Basal cell nevus syndrome 164 Chromosome four p- syndrome 102 Basan syndrome 165 Chromosome foutteen q distal partial trisomy 103 Basilar impression, primary syndrome 104 Beckwith-Wiedemann syndrome 166 Chromosome fourteen q proximal partial 105 Berlin syndrome trisomy syndrome 106 Beta-mercaptolactate-cysteine disulfiduria (Marker) 167 Chromosome thirteen q- syndrome 107 B eta-methy1-crotony }-glycinuria 168 Chromosome thirteen trisomy syndrome 108 Bicuspid aortic valve 169 Chromosome triploidy syndrome 109 Bicuspid pulmonary valve 170 Chromosome twenty-one monosomy 110 Biliary atresia 171 Chromosome twenty-one trisomy syndrome 111 Blepharochalasis, double and nontoxic 172 Chromosome twenty-two monosorny thyroid enlargement 173 Chromosome 45,X/46,XY mosaicism 112 Bloom syndrome 174 Citrullinemia 113 Blue rubber bleb nevus syndrome 175 Clasped thumbs 114 176 Cleft lip or palate and filiform fusion of eyelids 115 Brain, spongy degeneration 177 Cleft lip or palate and lip pits or mounds 116 Brancher deficiency 178 Cleft lip with or without cleft palate 117 Branchial cleft cysts or sinuses 179 Cleft lip-palate, ectodermal dysplasia and syndactyly 118 Branchio-skeleto-genital syndrome 180 Cleft palate 119 Broad thumb-hallux syndrome 181 Cleft palate and persistence of buccopharyngeal 120 Bronchial atresia membrane 121 C syndrome 182 Cleft palate, micrognathia and 122 Campomelic dysplasia 183 Cleft palate, stapes fixation and oligodontia 123 Cardioauditory syndrome 184 Cleft uvula (Marker) 124 Carnitine deficiency of muscle, primary 185 Cleidocranial dysplasia 125 Carnitine palmytl transferase deficiency 186 CNS arteriovenous malformation 126 Carnosinemia 187 CNS depression, hemorrhage, skeletal syndrome 127 Carotid body tumor 188 CNS neoplasms 128 Carpal-tarsal osteolysis and chronic 189 progressive glomerulopathy 190 Coffin-Lowry syndrome 129 Carpal-tarsal osteolysis, recessive 191 Cogan congenital ocular motor apraxia 130 Caruncle aberrations 192 Colon aganglionosis 131 Cataract and ichthyosis 193 Colon atresia or stenosis 132 Cataracts, cortical and nuclear 194 Colon duplication 133 Cataracts, polar and capsular 195 Color blindness, blue monocone-monochromatic 134 Central core disease 196 Color blindness, red-green deutan series 135 Centralopathic epilepsy 197 Color blindness, red-green protan series 136 Cerebellar ataxia and chorioretinal degeneration 198 Color blindness, total 137 Cerebral gigantism 199 Color blindness, yellow-blue 138 Cerebro-costo-mandibular syndrome 200 Common origin of brachiocephalic and 139 Cerebro-hepato-renal syndrome contralateral carotid artery 140 Cerebro-oculo-facio-skeletal syndrome 201 Cone-rod degeneration 141 Cerumen variation (Marker) 202 Conjoined twins 142 Cervico-oculo-acoustic syndrome 203 Coproporphyria 143 Chediak-Higashi syndrome 204 Cor triatriatum 144 glandularis 205 Cornea plana 145 Chemodectoma of middle ear 206 Corneal dystrophy and sensorineural deafness 146 Chin fissure 207 Corneal dystrophy, congenital hereditary 147 Chin, trembling 208 Corneal dystrophy, endothelial 148 Chloride diarrhea, congenital 209 Corneal dystrophy, granular 149 Choledochal cyst 210 Corneal dystrophy, juvenile epithelial 150 Cholesteatoma of temporal bone 211 Corneal dystrophy, lattice Compendium xxvii

212 Corneal dystrophy, macular 275 Deafness, vitiligo and muscle wasting 213 Corneal dystrophy, polymorphous posterior 276 Dens in dente 214 Corneal dystrophy, recurrent erosive 277 dysplasia, coronal 215 Corneal dystrophy, Reis-Biicklers 278 , radicular 216 Corneal dystrophy, Schnyder crystalline 279 Dentinogenesis imperfecta 217 Coronary arterial calcinosis 280 Dentine-osseous dysplasia 218 Coronary arteriovenous fistula 281 Dermal hypoplasia, focal 219 Coronary artery, single 282 Dermo-chondro-corneal dystrophy of Franyois 220 agenesis 283 Dermoid cyst or teratoma of head and neck 221 Cortical hyperostosis, infantile 284 Dermolipoma 222 Corticosteroid-binding globulin abnormalities 285 Dextrocardia, bronchiectasis and sinusitis syndrome 223 Cranio-carpo-tarsal dysplasia 286 Dextroposition of ventricular septum and double inlet 224 Craniodiaphyseal dysplasia left ventricle 225 Craniofacial dysostosis 287 insipidus, vasopressin-resistant 226 Craniofacial dysostosis with diaphyseal hyperplasia 288 Diaphragm, eventration 227 Craniofacial dyssynostosis 289 Diaphragmatic hernia 228 Craniometaphyseal dysplasia 290 Diaphyseal dysplasia 229 Cranio-oculo-dental syndrome 291 Diastema, median incisal (Marker) 230 Craniosynostosis 292 Diastematomyelia 231 Craniosynostosis-radial aplasia syndrome 293 Diastrophic dysplasia 232 Cryptotia 294 Dicarboxylic aminoaciduria 233 Cutis laxa 295 Diplegia, spastic 234 296 Distichiasis 235 Cylindromas of scalp 297 Double outlet right ventricle with anterior ventricu- 236 Cystathioninuria lar septal defect 237 Cystic fibrosis 298 Double outlet right ventricle with posterior ventri- 238 Cystinosis cular septal defect 239 Cystinuria 299 Dubowitz syndrome 240 Cysts of spleen 300 Duodenal atresia or stenosis 241 Darwin tubercle (Marker) 301 Dupuytren contracture 242 De Lange syndrome 302 , Laron 243 Deaf-mutism, semilethal 303 Dwarfism, panhypopituitary 244 Deafness and absent incudo-stapedial junction 304 Dwarfism, pituitary with abnormal sella turcica 245 Deafness and atopic dermatitis 305 Dwarfism, snub-nose 246 Deafness and diabetes 306 Dyggve-Melchior-Clausen syndrome 247 Deafness and ear pits 307 Dysautonomia 248 Deafness and episodic vertigo 308 Dyschondrosteosis 249 Deafness and goiter 309 Dyscoria 250 Deafness and metaphyseal dysostosis 310 Dysosteosclerosis 251 Deafness and myopia 311 Dysplasia epiphysealis hemimelica 252 Deafness and onychodystrophy 312 Ear, absent tragus 253 Deafness and progressive optic nerve atrophy 313 Ear, arteriovenous fistula 254 Deafness-conductive and malformed low-set 314 Ear, cupped 255 Deafness, diabetes, photomyoclonus and nephropathy 315 Ear dysplasias, inner 256 Deafness, dominant low-frequency 316 Ear, ectopic pinna 257 Deafness, goiter and peripheral resistance to thyroid 317 Ear, exchondrosis (Marker) hormone 318 Ear exostoses 258 Deafness, hyperprolinuria and ichthyosis 319 Ear, hairy 259 Deafness, keratopachydermia and digital constrictions 320 Ear lobe, absent 260 Deafness, low-tone 321 Ear lobe, cleft 261 Deafness, myopia, cataract and saddle nose 322 Ear lobe pit (Marker) 262 Deafness, onychodystrophy and digital anomalies 323 Ear lobes, attached (Marker) 263 Deafness, peripheral pulmonary stenoses and brachy- 324 Ear lobes, hypertrophic thickened telephalangy 325 Ear, long, narrow, posteriorly rotated 264 Deafness, renal and digital anomalies 326 Ear,lop neuropathy 265 Deafness-sensorineural, diverticulitis and 327 Ear, low-set 266 Deafness-sensorineural, dystonia and retardation 328 Ear, Mozart (Marker) 267 Deafness-sensorineural, midfrequency 329 Ear pits (Marker) Deafness-sensorineural, polyneuropathy and optic atrophy 268 330 Ear, prominent anthelix 269 Deafness-sensorineural, progressive high-tone 331 Ear, small with folded-down helix 270 Deafness-sensorineurai, recessive early-onset Ebstein anomaly 271 Deafness-sensorineural, recessive profound 332 272 Deafness, streptomycin-sensitivity 333 Ectodermal dysplasia, anhidrotic 273 Deafness, tune (Marker) 334 Ectodermal dysplasia, hidrotic 274 Deafness, unilateral inner ear 335 Ectopia cordis xxviii Compendium

336 Ectrodactyly 399 Fundus albipunctatus 337 Ectrodactyly-ectodermal dysplasia-clefting syndrome 400 Fundus flavimaculatus 338 Ehlers-Danlos syndrome 401 G syndrome 339 Elastosis perforans serpiginosa 402 Galactokinase deficiency 340 Enamel and dentin defects from erythroblastosis 403 Galactosemia fetalis 404 Gallbladder anomalies 341 Enamel and dentin defects from tetracycline 405 Gastroschisis 342 Enamel, hypoplasia 406 Gaucher disease 343 Encephalocele 407 Gingival fibromatosis 344 Encephalopathy necrotizing 408 Gingival fibromatosis and corneal dystrophy 345 Enchondromatosis 409 Gingival fibromatosis and digital anomalies 346 Enchondromatosis and hemangiomas 410 Gingival fibromatosis and hypertrichosis 347 Endocardial cushion defects 411 Gingival fibromatosis and multiple hyaline fibromas 348 Endocardial fibroelastosis of left ventricle 412 Gingival fibromatosis, Cowden type 349 Endocardial fibroelastosis of right ventricle 413 Gingival fibromatosis, depigmentation and 350 Endocrine neoplasia I, multiple microphthalmia 351 Endocrine neoplasia II, multiple 414 Glaucoma, congenital 352 Endocrine neoplasia Ill, multiple 415 Globoid cell leukodystrophy 353 Endomyocardial fibrosis of left ventricle 416 Glomus tumors, multiple 354 Endomyocardial fibrosis of right ventricle 417 , median rhomboid 355 Epiblepharon 418 Glucoglycinuria (Marker) 356 Epicanthus 419 Glucose-galactose malabsorption 357 Epimerase deficiency (Marker) 420 Glucose-6-phosphate dehydrogenase deficiency 358 Epiphyseal dysplasia, multiple 421 Glutaric aciduria 359 Epithelioma, multiple self-healing squamous 422 Glutathionuria 360 , congenital 423 Gluten-induced enteropathy 361 Erythrokeratoderma, variable 424 Glycogen synthetase deficiency 362 Erythropoietic protoporphyria 425 Glycogenosis, type I 363 Esophageal achalasia 426 Glycogenesis, type III 364 Esophageal atresia 427 Glycogenesis, type VI 365 Esophageal atresia and tracheoesophageal fistula 428 Glycogenosis, type VII 366 Esophageal chalasia 429 Glycogenosis, type VIII 367 Esophageal diverticulum 430 Glycogenosis, type IX 368 Esophageal duplication 431 GMt -gangliosidosis, type 1 369 Esophageal stenosis 432 GMt-gangliosidosis, type 2 370 Eustachian tube defects 433 GM2-gangliosidosis with hexosaminidase A and B 371 Eyelid ectropion, congenital deficiency 372 Eyelid entropion 434 GM2-gangliosidosis with hexosaminidase A deficiency 373 Fabry disease 435 Goiter, goitrogen-induced 374 Facial cleft, lateral 436 Gonadal dysgenesis, XX type 375 Facial cleft, oblique 437 Gonadal dysgenesis, XY type 376 Facial diplegia, congenital 438 Gonadotropin deficiency, isolated 377 Facial palsy, congenital 439 Goniodysgenesis 378 Facial palsy, late-onset 440 Gorlin-Chaudhry-Moss syndrome 379 Fetal alcohol syndrome 441 Gout 380 Fetal aminopterin syndrome 442 Granulomatous disease of females, chronic Granulomatous disease of males, chronic 381 Fetal cytomegalovirus syndrome 443 382 Fetal hydantoin syndrome 444 Granulosis rubra nasi 383 Fetal radiation syndrome 445 Grebe syndrome Group-specific component (Marker) 384 Fetal rubella syndrome 446 385 Fetal syphilis syndrome 447 deficiency, isolated Gustatory sweating 386 Fetal thalidomide syndrome 448 Gyrate atrophy 387 Fetal toxoplasmosis syndrome 449 Hand muscle wasting and sensorineural deafness 388 Fetal trimethadione syndrome 450 syndrome 389 Fetal warfarin syndrome 451 Hanhart 390 Fibrous dysplasia, monostotic 452 Haptoglobin (Marker) 391 Fibrous dysplasia, polyostotic 453 Hartnup disorder 392 dysplasia and brachydactyly 454 Heart block, congenital complete 393 Fingerprints absent 455 Heart-hand syndrome 394 Frontometaphyseal dysplasia 456 Hemangioma and thrombocytopenia syndrome 395 Fructose-1-phosphate aldolase deficiency 457 Hemifacial microsomia 396 Fructose-I ,6-diphosphatase deficiency 458 Hemihypertrophy 397 Fructosuria (Marker) 459 and scalp-skull defects 398 Fucosidosis 460 Hemochromatosis, idiopathic Compendium xxix

461 Hemophilia A 522 Immunodeficiency, severe combined 462 Hemophilia B 523 Immunodeficiency with Wiskott-Aldrich syndrome 463 Hepatic agenesis 524 Immunodeficiency, X-linked severe combined 464 Hepatic arterial anomalies 525 Immunoglobulin A deficiency 465 Hepatic cyst, solitary 526 Incontinentia pigmenti 466 Hepatic hemangiomatosis 527 Independent origin of ipsilateral vertebral artery 467 Hepatic lobes, accessory 528 Inferior vena cava, absent hepatic segment 468 Hepatic venous anomalies 529 Inguinal hernia 469 Hepatolenticular degeneration 530 Internal carotid artery aneurysm of middle ear 470 Herrmann-Opitz arthrogryposis syndrome 531 Intestinal atresia or stenosis 471 Hiatus hernia 532 Intestinal duplication 472 Histidinemia 533 Intestinal enterokinase deficiency 473 Holoprosencephaly 534 Intestinallymphangiectasia 474 Homocystinuria 535 Intestinal polyposis I & II 475 Horner syndrome 536 Intestinal polyposis III 476 Human allotypes (Markers) 537 Intestinal rotation, incomplete 4 7 7 Humeroradial synostosis 538 Intraepithelial dyskeratosis 478 Huntington chorea 539 Intraosseous fibrous swelling of 479 Hyaloideoretinal degeneration of Wagner 480 Hydranencephaly 540 Inversion of ventricles with transposition of great 481 Hydrocephaly arteries 482 Hydroxyprolinemia (Marker) 541 Inversion of ventricles without transposition of great 483 Hymen, imperforate arteries 484 Hyperaldosteronism, familial glucocorticoid 542 Iodide transport defect suppressible 543 Iodotyrosine deiodinase deficiency 485 Hyperammonemia 544 Iris coloboma and anal atresia syndrome 486 Hyperbeta-alaninemia 54 5 Isolated meconium ileus 487 Hyperbilirubinemia I (Marker) 546 Isolation of subclavian artery from aorta 488 Hypercholesteremia 54 7 lsovalericacidemia 489 Hyperchylomicronemia 548 -winking syndrome 490 Hypercystinuria (Marker) 549 Juvenile diabetes mellitus 491 Hyperdibasic-aminoaciduria 550 Juvenile diabetes mellitus, optic atrophy and deafness 492 Hyperglycinemia, nonketotic 551 Keloid 493 Hyperhidrosis, premature hair greying and premolar 552 Keratoconus aplasia 553 Keratopathy, band-shaped 494 Hyperkeratosis palmoplantaris and periodontoclasia 554 KGB syndrome 495 Hyperlipoproteinemia III 555 Kleeblattsclu'idel anomaly 496 Hyperlipoproteinemia, combined 556 Klinefelter syndrome 497 Hyperostosis corticalis generalisata 55 7 Kniest dysplasia 498 Hyperostosis frontalis interna 558 Knuckle pads, leukonychia and deafness 499 Hyperparathyroidism, neonatal familial 559 Koilonychia 500 Hyperprebeta-lipoproteinemia 560 Kuskokwim syndrome 501 Hyperprebeta-lipoproteinemia and hyperchylomicronemia 561 Kyrle disease 502 Hyperprolinemia (Marker) 562 Labyrinth aplasia 503 Hypersarcosinemia 563 Lacrimal canaliculus atresia 5 04 Hypertelorism 5 64 Lacrimal gland, ectopic 505 Hypertelorism-hypospadias syndrome 565 Lacrimal sac fistula 506 Hypertelorism, microtia, facial clefting and conductive 566 Lactase deficiency, congenital deafness 567 Lactase deficiency, primary 507 Hypertrichosis lanuginosa 568 Lactate dehydrogenase isozymes 508 Hyperuricemia, deafness and ataxia 569 Lactose intolerance 509 Hypervalinemia 570 Larsen syndrome 510 Hypochondroplasia 571 Laryngeal atresia 511 and nail dysgenesis 572 Laryngeal cysts 512 Hypoglycemia, familial neonatal 573 Laryngeal ventricle, prolapse 513 Hypoglycemia, leucine-induced 574 Laryngeal web 514 Hypomagnesemia, primary 575 Laryngocele 515 Hypoparathyroidism, X-linked infantile 576 Laryngomalacia 516 Hypophosphatasia 577 Laryngo-tracheo-esophageal cleft 51 7 Hypophosphatemia 57 8 Laurence-Moon-Biedl syndrome 518 Hypospadias 579 Leber optic atrophy 519 Imidazole aminoaciduria (Marker) 520 lminoglycinuria (Marker) 580 Lecithin: cholesterol acyl transferase deficiency 521 Immunodeficiency, common variable 581 Left ventricle, double outlet XXX Compendium

582 Left ventricle, single papi11ary muscle 646 Mesomelic dysplasia, Langer type 583 Lens and pupil, ectopic 647 Mesomelic dysplasia, Nievergelt type 584 Lens, ectopic 648 Mesomelic dysplasia, Reinhardt-Pfeiffer type 585 Lenticonus 649 Mesomelic dysplasia, Werner type 586 Lentigines syndrome, multiple 650 Metachondromatosis 587 Leprechaunism 651 Metachromatic leukodystrophies 588 Lesch-Nyhan syndrome 652 Metaphyseal chondrodysplasia, type Jansen 589 Leukonychia 653 Metaphyseal chondrodysplasia, type McKusick 590 Liddle syndrome 654 Metaphyseal chondrodysplasia, type Schmid 591 Limbal dermoid 655 Metaphyseal chondrodysplasia with thymolym- 592 Limb-oto-cardiac syndrome phopenia 593 Linear nevus sebaceous syndrome 656 Metatropic dysplasia 594 Lip, double 657 Methionine malabsorption syndrome 595 Lip, median cleft of upper 658 Methylmalonic acidemia 596 Lip pits or mounds (Marker) 659 597 Lipase deficiency, congenital isolated 660 (Marker) 598 Lipogranulomatosis 661 Microphthalmia 599 Lipoid proteinosis 662 Microphthalmia and digital anomalies 600 Lipomas, familial symmetric 663 Microspherophakia 601 Lipomatosis of face and neck 664 MicrotiaMatresia 602 Lipomeningocele 665 Mitral valve atresia 603 Lissencephaly syndrome 666 Mitral valve insufficiency 604 Liver, hamartoma 667 Mitral valve insufficiency, deafness and skeletal 605 Liver, polycystic disease malformations 606 Liver transposition 668 Mitral valve prolapse 607 Lobodontia 669 Mitral valve stenosis 608 Localized absence of skin 670 Moynahan syndrome 609 Localized absence of skin, blistering and nail 671 Mucolipidosis I abnormalities 672 Mucolipidosis II 610 Long Qt syndrome without deafness 673 Mucolipidosis III 611 Lung, aberrant lobe 674 Mucopolysaccharidosis I-H 612 Lung lobe sequestration 675 Mucopolysaccharidosis I-S 613 Lymphangioma of alveolar ridges 676 Mucopolysaccharidosis II 614 Lymphedema I 677 Mucopolysaccharidosis III 615 Lymphedema II 678 Mucopolysaccharidosis IV 616 Lysinemia 679 Mucopolysaccharidosis VI 617 680 Mucopolysaccharidosis VII 618 Macroglossia 681 Mucosa, white folded dysplasia 619 682 MUllerian aplasia 620 Macula, heterotopic 683 MUllerian derivatives in males, persistent 621 Macular coloboma and brachydactyly 684 MUllerian fusion, incomplete 622 Macular degeneration, vitelliruptive 685 Multiple cartilaginous exostoses 623 Madarosis 686 Muscle hypoplasia, congenital universal 624 Malate dehydrogenase, mitochondrial (Marker) 687 Muscular dystrophy, adult pseudohypertrophic 625 Malate dehydrogenase, soluble (Marker) 688 Muscular dystrophy, autosomal recessive pseudohyper- 626 Mandibular trophic 627 Mandibulofacial dysostosis 689 Muscular dystrophy, childhood pseudohypertrophic 628 Maple syrup urine disease 690 Muscular dystrophy, distal 629 Marden-Walker syndrome 691 Muscular dystrophy, limb-girdle 630 692 Muscular dystrophy, oculopharyngeal 631 Maxilla, median alveolar cleft 693 Myelomeningocele 632 McDonough syndrome 694 Myopathy, mitochondrial 633 Meckel diverticulum 695 Myopathy, myotubular 634 Meckel syndrome 696 Myopathy, nemaline 635 Median cleft face syndrome 697 Myopathy with lactic acidemia 636 Median clefts of lower lip, and tongue 698 Myophosphorylase deficiency 637 Megalocornea 699 Myopia 638 Megalocornea-mental retardation syndrome 700 Myositis ossificans 639 Melanocytoma 701 Myotonia congenita 640 Melanosis oculi, congenital 702 Myotonic dystrophy 641 Melorheostosis 703 Naegeli syndrome 642 Meningocele 704 Nail-patella syndrome 643 Menkes syndrome 705 Nasolacrimal duct impatency 644 Mesenchymal dysplasia of PuretiC 706 Nasopharyngeal cysts 645 Mesenteric cysts 707 Nasopharyngeal stenosis Compendium xxxi

708 Nephritis and nerve deafness, hereditary 766 Origin of left pulmonary artery from right pulmonary 709 Nephrosis, congenital artery 710 Nephrosis, familial 767 Origin of pulmonary artery from ascending aorta 711 Neuroectodermal pigmented tumor 768 Origin of pulmonary artery from ductus arteriosus 712 Neurofibromatosis 769 Oro-crania-digital syndrome 713 Neuronal ceroid-lipofuscinoses 770 Oro-facio-digital syndrome I 714 Neutropenia, cyclic 771 Oro-facio-digital syndrome II 715 Nevus flammeus 772 Oroticaciduria 716 Nevus of Ota 773 Ossicle and middle ear malformations 717 Niemann-Pick disease 774 Osteochondritis dissecans 718 Night blindness 775 Osteodysplasty 719 Night blindness, stationary 776 Osteoectasia 720 777 Osteogenesis imperfecta 721 Norrie disease 778 Osteopathia striata 722 Nose and nasal septum defects 779 Osteopetrosis, dominant 723 Nose, anterior atresia 780 Osteopetrosis, recessive 724 Nose, bifid 781 Osteopoikilosis 725 Nose, duplication 782 , juvenile idiopathic 726 Nose, glioma 783 Osteoporosis-pseudoglioma syndrome 727 Nose, posterior atresia 784 Otodental dysplasia 728 Nose, transverse groove (Marker) 785 Oto-oculo-musculo-skeletal syndrome 729 Nucleoside-phosphorylase deficiency 786 Oto-palato-digital syndrome 730 Obesity, hyperthermia, oligomenorrhea and parotid 787 Otosclerosis swelling 788 Pachydermoperiostosis 731 Obstruction within right ventricle or its outflow tract 789 Pachyonychia congenita 732 Ocular and facial anomalies with proteinuria and 790 Palate fistula (Marker) deafness 791 Pallister-W syndrome 733 Ocular colobomas 792 Palma-plantar erythema 734 Ocular drusen 793 Pancreatitis, hereditary 735 Oculo-auriculo-vertebral dysplasia 794 Paralysis, hyperkalemic periodic 736 Oculo-cerebro-renal syndrome 795 Paralysis, hypokalemic periodic 737 Oculo-dento-osseous dysplasia 796 Paramyotonia congenita 738 Oculo-mandibulo-facial syndrome 797 Paranasal sinuses, absent 739 Odontodysplasia 798 Parastremmatic dysplasia 740 Oguchi disease 799 , punctate 741 Oligophrenia, epilepsy and ichthyosis syndrome 800 Patent ductus arteriosus 742 Olivopontocerebellar atrophy, dominant Menzel type 801 Pectus carinatum 743 Olivopontocerebellar atrophy, dominant Schut- 802 Pectus excavatum Haymaker type 803 Pelizaeus-Merzbacher syndrome 744 Olivo pontocerebellar atrophy, dominant with 804 Pentosuria (Marker) ophthalmoplegia 805 Pericardium agenesis 745 Olivopontocerebellar atrophy, dominant with retinal 806 Periodontosis, juvenile degeneration 807 Persistent left superior vena cava connected to 746 Olivopontocerebellar atrophy, late-onset coronary sinus 747 Olivopontocerebellar atrophy, recessive Fickler-Winkler 808 Phenylketonuria type 809 Phenylthiocarbamide tasting (Marker) 748 Omphalocele 810 Phytanic acid storage disease 749 Ophthalmo-mandibulo-melic dysplasia 811 Pityriasis rubra pilaris 750 Ophthalmoplegia externa and myopia 812 Plasma-associated defect of phagocytosis 751 Ophthalmoplegia, familial static 813 Poland syndrome 752 Ophthalmoplegia, progressive external 814 Polydactyly 753 Ophthalmoplegia totalis with ptosis and miosis 815 Polymastia 754 Opitz-Kaveggia FG syndrome 816 Polysplenia syndrome 755 Optic atrophy, infantile heredofamilial 817 Polysyndactyly 756 Optic disk pits 818 Popliteal pterygium syndrome 757 Optic disk, situs inversus 819 Parakeratosis 758 Optic nerve hypoplasia 820 Porphyria, acute intermittent 759 Optico-cochleo-dentate degeneration 821 Porphyria, erythropoietic 760 Oral dermoids 822 Porphyria, variegate 761 Orbital and periorbital dermoid cysts 823 Prader-Willi syndrome 762 Orbital cephaloceles 824 Proboscis lateralis 825 Progeria 763 Orbital glioma 826 Propionic acidemia 764 Orbital hemangioma 827 Pruritus, hereditary localized 765 Orbital lymphangioma 828 Pseudoachondroplastic dysplasia xxxii Compendium

829 Pseudohypoaldosteronism 893 Spherophakia-_brachymorphia syndrome 830 Pseudohypoparathyroidism 894 Spinal cord, neurenteric cyst 831 Pseudovaginal perineoscrotal hypospadias 895 832 Pseudoxanthoma elasticum 896 Spondylocostal dysplasia 833 Psoriasis vulgaris 897 Spondyloepiphyseal dysplasia congenita 834 Ptosis, congenital 898 Spondyloepiphyseal dysplasia tarda 835 Pulmonary artery coarctation 899 Spondylometaphyseal chondrodysplasia, type Kozlowski 836 Pulmonary valve absent 900 Spondylothoracic dysplasia 837 Pulmonary valve atresia 901 Sprengel deformity 838 Pulmonary valve incompetence 902 Steroid 11 {J-hydroxylase deficiency 839 Pulmonary valve stenosis 903 Steroid 17 a-hydroxylase deficiency 840 Pulmonary valve, tetracuspid 904 Steroid 17, 20-desmolase deficiency 841 Pulmonary venous connection, partial anomalous 905 Steroid 18-hydroxylase deficiency 842 Pulmonary venous connection, total anomalous 906 Steroid 18-hydroxysteroid dehydrogenase deficiency 843 Pulpal dysplasia 907 Steroid 20-22 desmolase deficiency 844 Puncta and canaliculi, supernumerary 908 Steroid 21-hydroxylase deficiency 845 Pupillary membrane persistence 909 Steroid 3/3-hydroxysteroid dehydrogenase deficiency 846 Pyknodysostosis 910 Stomach atresia 847 Pyle disease 911 Stomach diverticulum 848 Pyloric stenosis 912 Stomach duplication 849 Pyroglutamic acidemia 913 Stomach hypoplasia 850 Pyruvate carboxylase deficiency with lactic acidemia 914 Stomach teratoma 851 Pyruvate dehydrogenase deficiency 915 Sturge-Weber syndrome 852 Pyruvate kinase deficiency 916 Subaortic stenosis, fibrous 853 Radial defects 917 Subaortic stenosis, muscular 854 Radioulnar synostosis 918 Subglottic hemangioma 855 Reifenstein syndrome 919 Subglottic stenosis 856 Renal agenesis, bilateral 920 Sucrase-isomaltase deficiency 857 Renal agenesis, unilateral 921 Sulfite oxidase deficiency 858 Renal bicarbonate reabsorptive defect 922 Supraventricular tachycardias, congenital 859 Renal disease, polycystic adult type 923 Syndactyly 860 Renal, genital and middle ear anomalies 924 Syringomyelia 861 Renal glycosuria (Marker) 925 Tapetochoroidal dystrophy 862 Renal tubular acidosis 926 (Marker) 863 Renal tubular acidosis and sensorineural deafness 927 Teeth, ankylosed 864 Renal tubular syndrome, Fanconi 928 Teeth, of roots 865 Retinal aplasia 929 Teeth, dilacerated 866 Retinal dysplasia 930 Teeth, fused 867 Retinal fold 931 Teeth, geminated 868 Retinal telangiectasia and hypogammaglobulinemia 932 Teeth, impacted 869 Retinitis pigmentosa 933 Teeth, natal or neonatal 870 Retinoblastoma 934 Teeth, pegged or absent maxillary lateral incisor 871 Retinoschisis 935 Teeth, snow-capped 872 Retrolental fibroplasia 936 Teeth, supernumerary (Marker) 873 Rickets, vitamin D-dependent 937 Teeth, thistle-shaped pulp chambers 874 Ring constrictions 938 Tetralogy of Fallot 875 Roberts syndrome 939 Thalassemia 876 940 Thanatophoric dysplasia 877 Sacrococcygeal teratoma 941 Thrombocytopenia with absent radius 878 Salivary gland, mixed tumor 942 Thrombocytopenic purpura and lipid histiocytosis 879 Scimitar syndrome 943 Thymic agenesis 880 Sclerosteosis 944 Thymoma and agammaglobulinemia syndrome 881 945 Thyroglossal duct remnant 882 Short finger-flexor-tendons and inability to open 946 Thyroid dysgenesis mouth fully 947 Thyroid peroxidase defect 883 Short rib-polydactyly syndrome, Majewski type 948 Thyrotropin (TSH) unresponsiveness 884 Short rib-polydactyly syndrome, Saldino-Noonan type 949 Thyrotropin deficiency, isolated 885 Shwachman syndrome 950 Thyroxine-binding globulin defects (Marker) 886 Sickle cell anemia 951 Tongue folding or rolling (Markers) 887 Silver syndrome 952 Tongue, cleft 888 Situs inversus viscerum 953 Tongue, fissured (Marker) 889 Sixth nerve paralysis 954 Tongue, geographic 890 Skin leiomyomas, multiple 955 Tongue, pigmented papillae (Marker) 891 Smith-Lemli-Opitz syndrome 956 Tongue, plicated (Marker) 892 Spherocytosis 957 Torsion dystonia Compendium xxxiii

958 Torus mandihularis 982 Urticaria, deafness and amyloidosis 959 983 Usher syndrome 960 Tracheoesophageal fistula 984 Vaginal atresia 961 Transglucuronylase, severe deficiency 985 Vaginal septum, transverse 962 Transposition of great vessels 986 Van den Bosch syndrome 963 Tremor, duodenal ulceration syndrome 987 Vater association 964 Tremor, heredofamilial 988 Ventricular diverticulum 965 Tricho-dento-osseous syndrome 989 Ventricular septal defect 966 Tricho-rhino-phalangeal syndrome, type I 990 Viscera, fatty metamorphosis 967 Tricho-rhino-phalangeal syndrome, type II 991 Vitamin B6 dependency 968 Tricuspid valve atresia 992 Vitamin B12 malabsorption 969 Tricuspid valve insufficiency 993 Vitiligo 970 Tricuspid valve stenosis 994 Vitreous, persistent hyperplastic primary 971 True hermaphroditism 995 Von Hippel-Lindau syndrome 972 Truncus arteriosus 996 Von Willebrand disease 973 Trypsinogen deficiency 997 Waardenburg syndrome 974 Tryptophan malabsorption 998 Werner syndrome 975 Tuberous sclerosis 999 Williams syndrome 976 Tubular stenosis 1000 Winchester syndrome 977 1001 WL symphalangism-brachydactyly syndrome 97 8 Tyrosinemia 1002 Wolff-Parkinson-White syndrome 979 IJhl anomaly 1003 Wolman disease 980 Ulnar drift with digital webs and contractures 1004 Xeroderma and mental retardation 981 Ulnar-mammary syndrome, type Pallister 1005 Xeroderma pigmentosum Section ill Tables and Diagrams

Table Page Table Page !-Modes of mendelian inheritance ...... 1093 XV-Frequency of cleft lip and/or palate under 11-Metabolic disorders where specific enzyme various conditions...... 1104 defects have been described ...... I 094 XVI-Adult skeletal elements of the face derived Ill-Metabolic disorders where variants have from the frontonasal prominence and the been described ...... I 09 5 branchial arches ...... II 04 IV-Metabolic disorders transmitted as auto~ XVII-Natural appositions or junctions of the face somal recessives where heterozygotes along which clefts occur...... 1104 can be detected by direct XVIII-Syndromes with a prominent or forward measurements ...... 1095 bulging forehead, as distinguished from V-Metabolic disorders transmitted as auto- high, flat or broad foreheads which do somal recessives where heterozygotes not bulge forward as in acrocephalo• can be detected by loading tests ...... I 096 polysyndactyly ...... 1104 VI-Metabolic disorders transmitted as X-linked XIX-Syndromes with large sutures and fontanels recessives where heterozygotes can be or delayed closure...... 1105 detected by direct measurement ...... 1096 XX-Conditions which may cause the illusion of VII-Metabolic disorders which can be screened hypertelorism even though the actual for during newborn period ...... I 096 interorbital distance as measured on PA VIII-Metabolic disorders which can be detected radiographs may be small or normal . . . . II 05 in leukocytes or fibroblasts ...... I 097 IX-Metabolic disorders which theoretically can XXI-Genetic forms of pituitary dwarfism ...... 1105 and which have been detected pre- XXII-Biologic mother...... 1106 natally ...... 1098 XXIII-Retardation ...... 1106 X-Metabolic diseases where specific forms of XXIV-Birth defects which may involve the Eye . . 1107 therapy are available ...... I 099 Xi-Clinical and hematologic features of the XXV-Birth defects which may involve the Ear ... 1108 major forms of thalassemia ...... 1100 XXVI-Birth defects which may involve the Face, XII-Cleft lip with or without cleft palate, Facial Bones, Nose, or Nasopharynx .... 1108 derived complications and frequencies . . 1101 XXVII-Birth defects which may involve the Oral XIII-Cleft lip with or without cleft palate, Cavity, Teeth, Speech, or Neck...... II 09 associated complications and fre- XXVIII-Birth defects which may involve Skin, Hair, quencies ...... 1101 or Nails...... 1109 XIV-Cleft palate, associated complications and XXIX-Birth defects which may involve the Skeletal frequencies ...... 11 02 System ...... 1110

xxxiv Tables and Diagrams xxxv

Table Page Diagram Page XXX-Birth defects which may involve the !-Simplified scheme of steroidogenesis in the Muscular System ...... 1111 adrenal gland ...... 1116 XXXI-Birth defects which may involve the 11-Role of testosterone and dihydrotestosterone Respiratory System ...... 1111 in sexual differentiation in utero ...... I I 16 XXXII-Birth defectsM'hich may involve the Heart III-Hypospadias associated with maternal treat- or Vessels ...... ! I 12 ment with progestins...... 1117 XXXIII-Birth defects which may involve the liver IV -Gonadal dysgenesis and its variants ...... 1117 or Spleen ...... II I2 V-External genital differentiation in the human XXXIV-Birih defects which may involve !he GI fetus ...... 1118 System ...... 1113 VI-Sexual differentiation in the human fetus .... 11 I9 XXXV-Birth defects which may involve !he GU VII-Allotransplantation in genetic diseases...... 1120 System ...... 1113 VIII-Hair patterning ...... 1 I20 XXXVI-Birih defects which may involve !he IX-Hair patterning ...... 1121 Nervous System ...... 1114 . X-Hair patterning ...... 1122