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Atlas of Genetic Diagnosis and Counseling Atlas of Genetic Diagnosis and Counseling ATLAS OF GENETIC DIAGNOSIS AND COUNSELING ATLAS OF GENETIC DIAGNOSIS AND COUNSELING HAROLD CHEN, MD, FAAP, FACMG Professor of Pediatrics, Obstetrics and Gynecology, and Pathology, Louisiana State University Health Science Center, Shreveport, LA © 2006 Humana Press Inc. 999 Riverview Drive, Suite 208 Totowa, New Jersey 07512 humanapress.com For additional copies, pricing for bulk purchases, and/or information about other Humana titles, contact Humana at the above address or at any of the following numbers: Tel.: 973-256-1699; Fax: 973-256-8341; E-mail: [email protected]; Website: humanapress.com All rights reserved. No part of this book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording, or otherwise without written permission from the Publisher. All articles, comments, opinions, conclusions, or recommendations are those of the author(s), and do not necessarily reflect the views of the publisher. Due diligence has been taken by the publishers, editors, and author of this book to ensure the accuracy of the information published and to describe generally accepted practices. The contributors herein have carefully checked to ensure that the drug selections and dosages set forth in this text are accurate in accord with the standards accepted at the time of publication. Notwithstanding, as new research, changes in government regulations, and knowledge from clinical experience relat- ing to drug therapy and drug reactions constantly occurs, the reader is advised to check the product information provided by the manufacturer of each drug for any change in dosages or for additional warnings and contraindications. This is of utmost importance when the recommended drug herein is a new or infrequently used drug. It is the responsibility of the health care provider to ascertain the Food and Drug Administration status of each drug or device used in their clinical practice. The publisher, editors, and authors are not responsible for errors or omissions or for any consequences from the application of the information presented in this book and make no warranty, expressed or implied, with respect to the contents in this publication. Cover illustrations: To Come Production Editor: Nicole E. Furia Cover design by Patricia F. Cleary This publication is printed on acid-free paper. ∞ ANSI Z39.48-1984 (American National Standards Institute) Permanence of Paper for Printed Library Materials. Photocopy Authorization Policy: Authorization to photocopy items for internal or personal use, or the internal or personal use of specific clients, is granted by Humana Press Inc., provided that the base fee of US $30.00 per copy is paid directly to the Copyright Clearance Center at 222 Rosewood Drive, Danvers, MA 01923. For those organizations that have been granted a photocopy license from the CCC, a separate system of payment has been arranged and is acceptable to Humana Press Inc. The fee code for users of the Transactional Reporting Service is: [1-58829-681-4/06 $30.00]. e-ISBN 1-59259-956-7 Printed in the United States of America. 10 9 8 7 6 5 4 3 2 1 Library of Congress Cataloging-in-Publication Data Atlas of genetic diagnosis and counseling / authored by Harold Chen. p. cm. Includes bibliographical references. ISBN 1-58829-681-4 (alk. paper) 1. Genetic disorders--Diagnosis--Atlases. 2. Genetic counseling--Atlases. [DNLM: 1. Genetic Diseases, Inborn--Atlases. 2. Genetic Counseling--Atlases. 3. Prenatal Diagnosis--Atlases. QZ 17 A880383 2006] I. Chen, Harold. RB155.6.A93 2006 616'.042--dc22 2005005388 Preface This book, Atlas of Genetic Diagnosis and understanding of these conditions and their care of Counseling, reflects my experience in 38 years of affected individuals and their families. It is also my clinical genetics practice. During this time, I have intention to bring the basic science and clinical med- cared for many patients and their families and taught icine together for the readers. Atlas of Genetic innumerable medical students, residents, and prac- Diagnosis and Counseling is designed for physicians ticing physicians. As an academic physician, I have involved in the evaluation and counseling of patients found that a picture is truly “worth a thousand with genetic diseases, malformations, and malforma- words,” especially in the field of dysmorphology. tion syndromes, including medical geneticists, Over the years, I have compiled photographs of my genetic counselors, pediatricians, neonatologists, patients, which are incorporated into this book to developmental pediatricians, perinatologists, obste- illustrate selected genetic disorders, malformations, tricians, neurologists, pathologists, and any physi- and malformation syndromes. A detailed outline of cians and health care professionals caring for each disorder is provided, describing the genetics, handicapped children such as craniofacial surgeons, basic defects, clinical features, diagnostic investiga- plastic surgeons, otolaryngologists, and orthopedics. tions, and genetic counseling, including recurrence I am grateful to many individuals for their risk, prenatal diagnosis, and management. Color invaluable help in reading and providing cases for photographs are used to illustrate the clinical fea- illustration. The acknowledgments are provided on tures of patients of different ages and ethnicities. a separate page. Without the patience and encour- Photographs of prenatal ultrasounds, imagings, cyto- agement of my dear wife, Cheryl, this atlas would genetics, and postmortem findings are included to not have been possible. I would like to dedicate help illustrate diagnostic strategies. The cases are this book to Children’s Hospital, Louisiana State supplemented by case history and diagnostic confir- University Health Sciences Center in Shreveport, mation by cytogenetics, biochemical, and molecular for its continued excellence in pediatric care and studies, if available. An extensive literature review education. was done to ensure up-to-date information and to I would welcome comments, corrections, and crit- provide a relevant bibliography for each disorder. icism from readers. This book was written in the hope that it will help physicians improve their recognition and Harold Chen, MD, FAAP, FACMG v Contents Preface . v Cleidocranial Dysplasia . 185 Cloacal Exstrophy . 191 Acknowledgments . xi Collodion Baby . 195 Acardia . 1 Congenital Adrenal Hyperplasia Achondrogenesis . 7 (21-Hydroxylase Deficiency) . 198 Achondroplasia . 15 Congenital Cutis Laxa . 207 Adams-Oliver Syndrome . 23 Congenital Cytomegalovirus Infection . 212 Agnathia . 26 Congenital Generalized Lipodystrophy . 217 Aicardi Syndrome . 29 Congenital Hydrocephalus . 221 Alagille Syndrome . 32 Congenital Hypothyroidism . 227 Albinism . 36 Congenital Muscular Dystrophy . 231 Amniotic Band Syndrome . 42 Congenital Toxoplasmosis . 236 Androgen Insensitivity Syndrome . 50 Conjoined Twins . 241 Angelman Syndrome . 56 Corpus Callosum Agenesis/Dysgenesis . 247 Apert Syndrome . 61 Craniometaphyseal Dysplasia . 252 Aplasia Cutis Congenita . 70 Cri-Du-Chat Syndrome . 256 Arthrogryposis Multiplex Congenita . 74 Crouzon Syndrome . 261 Asphyxiating Thoracic Dystrophy . 84 Cystic Fibrosis . 265 Ataxia Telangiectasia . 92 Dandy-Walker Malformation . 273 Atelosteogenesis . 96 De Lange Syndrome . 276 Autism . 102 Del(22q11.2) Syndromes . 282 Beckwith-Wiedemann Syndrome . 109 Diabetic Embryopathy . 289 Behcet Disease . 114 Down Syndrome . 295 Bladder Exstrophy . 118 Dyschondrosteosis (Leri-Weill Syndrome) and Body Stalk Anomaly . 122 Langer Mesomelic Dysplasia . 305 Branchial Cleft Anomalies . 126 Dysmelia (Limb Deficiency/Reduction) . 312 Dysplasia Epiphysealis Hemimelica . 323 Campomelic Dysplasia . 131 Dystonia . 326 Cat Eye Syndrome . 136 Dystrophinopathies . 331 Cerebro-Costo-Mandibular Syndrome . 139 Charcot-Marie-Tooth Disease . 142 Ectrodactyly-Ectodermal Dysplasia-Clefting CHARGE Association . 149 (EEC) Syndrome . 339 Cherubism . 153 Ehlers-Danlos Syndrome . 342 Chiari Malformation . 157 Ellis-van Creveld Syndrome . 350 Chondrodysplasia Punctata . 161 Enchondromatosis (Maffucci Syndrome; Chromosome Abnormalities in Pediatric Ollier Syndrome) . 355 Solid Tumors . 169 Epidermolysis Bullosa . 360 Cleft Lip and/or Cleft Palate . 180 Epidermolytic Palmoplantar Keratoderma . 366 vii viii CONTENTS Faciogenital (Aarskog) Dysplasia . 371 Kasabach-Merritt Syndrome . 563 Facioscapulohumeral Muscular Dystrophy . 375 KID Syndrome . 567 Familial Adenomatous Polyposis . 380 Klinefelter Syndrome . 570 Familial Hyperlysinemia . 386 Klippel-Feil Syndrome . 575 Fanconi Anemia . 389 Klippel-Trenaunay Syndrome . 580 Femoral Hypoplasia-Unusual Facies Syndrome . 395 Kniest Dysplasia . 585 Fetal Akinesia Syndrome . 398 Larsen Syndrome . 589 Fetal Alcohol Syndrome . 403 LEOPARD Syndrome . 597 Fetal Hydantoin Syndrome . 407 Lesch-Nyhan Syndrome . 600 Fibrodysplasia Ossificans Progressiva . 410 Lethal Multiple Pterygium Syndrome . 604 Finlay-Marks Syndrome . 415 Lowe Syndrome . 613 Fragile X Syndrome . 417 Fraser Syndrome . 423 Marfan Syndrome . 619 Freeman-Sheldon Syndrome . 427 McCune-Albright Syndrome . 630 Frontonasal Dysplasia . 431 Meckel-Gruber Syndrome . 636 Menkes Disease (Kinky-Hair Syndrome) . 639 Galactosemia . 437 Metachromatic Leukodystrophy . 646 Gastroschisis . 442 Miller-Dieker Syndrome . 650 Gaucher Disease . 446 Möbius Syndrome . 655 Generalized Arterial Calcification of Infancy . 452 Mucolipidosis II (I-Cell Disease) . ..
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