Atlas of Genetic Diagnosis and Counseling

Transcription

1 Atlas of Genetic Diagnosis and Counseling

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3 Harold Chen Atlas of Genetic Diagnosis and Counseling Second Edition With 2427 Figures and 1 Table

4 Harold Chen Perinatal and Clinical Genetics Department of Pediatrics LSU Health Sciences Center 1501 Kings Highway Shreveport, LA USA ISBN e-isbn Print and electronic bundle under ISBN DOI / Springer New York Dordrecht Heidelberg London Library of Congress Control Number: The first edition was published by # Humana Press Inc Second Edition: # Springer Science+Business Media, LLC 2012 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Cover illustration: Courtesy of Harold Chen Printed on acid-free paper Springer is part of Springer Science+Business Media (

5 I would like to dedicate this Atlas to Children s Hospital, Louisiana State University Health Sciences Center in Shreveport, Louisiana.

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7 Preface to the Second Edition It has been 5 years since the publication of the first edition of this atlas in Since then, significant progress has been made in the field of genetic diagnosis and counseling. The first edition of the atlas covered 203 chapters which were revised with current literature and addition of many illustrations, mostly in color. Fifty two new chapters have been added to this edition. Selected references have also been added to the text for the sources of the information. As with the previous edition, a detailed outline of each disorder is provided, describing the genetics, basic defects, clinical features, diagnostic investigations, and genetic counseling, including recurrence risk, prenatal diagnosis, and management. Relevant references are added in the second edition. The cases are supplemented by case history and diagnostic confirmations by imaging, cytogenetic, biochemical, and/or molecular studies. I am grateful to the following individuals for their contribution and support of this edition: Dr. Susonne Ursin, my genetic colleague and Chief of Perinatal Genetics, for case studies (Joubert syndrome, Mowatt-Wilson syndrome, otopalatodigital syndrome, rigid spine syndrome, Saethre-Chotzen syndrome, Silver-Russell syndrome); Dr. RMS Riel-Romero for megalencephalic leukoencephalopathy with subcortical cysts; Dr. Amal Anga for Duncan syndrome; Drs. Richard McCall, Phillip Gates, and Anne Hollister, Shreveport Shriners Hospital for Children; Dr. Ghali Ghali, Chairman of Oral and Maxillofacial Surgery; and Dr. Renata Pilatova, Pinecrest Development Center, for providing patients for studies and inclusion into this edition; Dr. Leonard Prouty, Ms. Rhonda Lee Young, and Mr. Jozo Ivancic, LSU Cytogenetics Laboratory for part of the karyotypes used in this edition; Mrs. Lynn Martin, Beverely Gildon, and Diane Dunki-Jacobs-Nolten for nursing care; and Ms. Ashli Daigle and Mrs. Barbara McHenry for their excellent clerical and secretarial help. My apologies in the event that I failed to mention others who have contributed to this edition. Without the patience and encouragement of my dear wife, Cheryl, this edition of the atlas would not have been possible. I would like to express my sincere appreciation to Dr. Joseph Bocchini, Chairman of the Department of Pediatrics, for his encouragement and support. I would like to dedicate this edition of the atlas to the Children s Hospital, Louisiana State University Health Sciences Center in Shreveport, for its excellence in pediatric care and education. As previously, I would welcome comments, corrections, and criticism from readers. Harold Chen, Shreveport, LA, USA October 2011 vii

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9 Preface to the First Edition This book, Atlas of Genetic Diagnosis and Counseling, reflects my experience in 38 years of clinical genetics practice. During this time, I have cared for many patients and their families and taught innumerable medical students, residents, and practicing physicians. As an academic physician, I have found that a picture is truly worth a thousand words, especially in the field of dysmorphology. Over the years, I have compiled photographs of my patients, which are incorporated into this book to illustrate selected genetic disorders, malformations, and malformation syndromes. A detailed outline of each disorder is provided, describing the genetics, basic defects, clinical features, diagnostic investigations, and genetic counseling, including recurrence risk, prenatal diagnosis, and management. Color photographs are used to illustrate the clinical features of patients of different ages and ethnicities. Photographs of prenatal ultrasounds, imaging, cytogenetics, and postmortem findings are included to help illustrate diagnostic strategies. The cases are supplemented by case history and diagnostic confirmation by cytogenetic, biochemical, and molecular studies, if available. An extensive literature review was done to ensure up-to-date information and to provide a relevant bibliography for each disorder. This book was written in the hope that it will help physicians improve their recognition and understanding of these conditions and their care of affected individuals and their families. It is also my intention to bring the basic science and clinical medicine together for the readers. Atlas of Genetic Diagnosis and Counseling is designed for physicians involved in the evaluation and counseling of patients with genetic diseases, malformations, and malformation syndromes, including medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedics. I am grateful to many individuals for their invaluable help in reading and providing cases for illustration. The acknowledgments are provided on a separate page. Without the patience and encouragement of my dear wife, Cheryl, this atlas would not have been possible. I would like to dedicate this book to the Children s Hospital, Louisiana State University Health Sciences Center in Shreveport, for its continued excellence in pediatric care and education. I would welcome comments, corrections, and criticism from readers. Harold Chen, M.D., FAAP, FACMG ix

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11 Biography Harold Chen, M.D., M.S., FAAP, FACMG Dr. Chen was born in I-Lan, Taiwan, and was a graduate from the National Taiwan University School of Medicine (M.D. degree) in Taipei, Taiwan. He received M.S. degree in Human Genetics from the University of Michigan Graduate School in Ann Arbor, Michigan. He finished pediatric residency and fellowship training from Wayne State University School of Medicine in Detroit, Michigan. He had been faculty at Wayne State University (Detroit), Wright State University (Dayton, Ohio), and University of South Alabama (Mobile, Alabama). Currently, he is professor of Pediatrics, Obstetrics and Gynecology, and Pathology at the Louisiana State University Health Sciences Center and Chief of Genetic Laboratory Services in Shreveport, Louisiana. Dr. Chen is board-certified in American Board of Pediatrics and American Board of Medical Genetics in Clinical Genetics and Clinical Cytogenetics. xi

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13 Table of Contents Acardia... 1 Achondrogenesis Achondroplasia Adams Oliver Syndrome Agnathia Aicardi Syndrome Alagille Syndrome Albinism Alpha-Thalassemia X-linked Mental Retardation Syndrome Ambiguous Genitalia Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex Androgen Insensitivity Syndrome Angelman Syndrome Apert Syndrome Aplasia Cutis Congenita Arthrogryposis Multiplex Congenita Asphyxiating Thoracic Dystrophy Ataxia-Telangiectasia Atelosteogenesis Autism Bannayan Riley Ruvalcaba Syndrome Beckwith Wiedemann Syndrome Behcet Disease Biotinidase Deficiency Bladder Exstrophy Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome xiii

14 xiv Table of Contents Body Stalk Anomaly Brachydactyly Branchial Cleft Anomalies Calcinosis Cutis Campomelic Dysplasia Carpenter Syndrome Cat Eye Syndrome Celiac Disease Cerebral Palsy Cerebro-Costo-Mandibular Syndrome Charcot Marie Tooth Disease CHARGE Syndrome Cherubism Chiari Malformation Chondrodysplasia Punctata Chromosome Abnormalities in Pediatric Solid Tumors Cleft Lip and/or Cleft Palate Cleidocranial Dysplasia Cloacal Exstrophy Clubfoot Collodion Baby Congenital Adrenal Hyperplasia Congenital Cutis Laxa Congenital Cytomegalovirus Infection Congenital Generalized Lipodystrophy Congenital Hemihyperplasia Congenital Hydrocephalus Congenital Hypothyroidism Congenital Muscular Dystrophy Congenital Toxoplasmosis Conjoined Twins Corpus Callosum Agenesis/Dysgenesis Craniometaphyseal Dysplasia

15 Table of Contents xv Cri-Du-Chat Syndrome Crouzon Syndrome Cutis Marmorata Telangiectatica Congenita Cystic Fibrosis Dandy Walker Malformation De Lange Syndrome Del(18p) Syndrome Del(22q11.2) Syndrome Del(Yq) Syndrome Diabetic Embryopathy Down Syndrome Duncan Syndrome Dyschondrosteosis Dysmelia Dysplasia Epiphysealis Hemimelica Dystonia Dystrophinopathies Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome Ehlers-Danlos Syndrome Ellis-van Creveld Syndrome Enchondromatosis Epidermolysis Bullosa Epidermolytic Palmoplantar Keratoderma Faciogenital (Faciodigitogenital) Dysplasia Facioscapulohumeral Muscular Dystrophy Familial Adenomatous Polyposis Familial Hyperlysinemia Familial Mediterranean Fever Fanconi Anemia Femoral Hypoplasia Unusual Facies Syndrome Fetal Akinesia Deformation Sequence Fetal Alcohol Spectrum Disorders Fetal Hydantoin Syndrome

16 xvi Table of Contents Fibrodysplasia Ossificans Progressiva Finlay Marks Syndrome Floppy Infant Fragile X Syndrome Fraser Syndrome Freeman Sheldon Syndrome Friedreich Ataxia Frontonasal Dysplasia Galactosemia Gastroschisis Gaucher Disease Generalized Arterial Calcification of Infancy Genitopatellar Syndrome Giant Congenital Melanocytic Nevi Glucose-6-Phosphate Dehydrogenase Deficiency Glycogen Storage Disease, Type II Goldenhar Syndrome Gorlin Syndrome Greig Cephalopolysyndactyly Syndrome Hallermann-Streiff Syndrome Harlequin Ichthyosis Hemophilia A Hereditary Hearing Loss Hereditary Hemochromatosis Hereditary Multiple Exostoses Herlyn-Werner-Wunderlich Syndrome Holoprosencephaly Holt-Oram Syndrome Huntington Disease Hydrolethalus Syndrome Hydrops Fetalis Hyper-IgE Syndrome Hypochondroplasia

17 Table of Contents xvii Hypoglossia-Hypodactylia Syndrome Hypohidrotic Ectodermal Dysplasia Hypomelanosis of Ito Hypophosphatasia Hypopituitarism I(1p), I(1q) Syndrome Idic(Yq) Syndrome Incontinentia Pigmenti Infantile Myofibromatosis Ivemark Syndrome Jarcho Levin Syndrome Joubert Syndrome Kabuki Syndrome Kasabach Merritt Syndrome KID Syndrome Klinefelter Syndrome Klippel Feil Syndrome Klippel Trenaunay Syndrome Kniest Dysplasia Larsen Syndrome LEOPARD Syndrome Lesch Nyhan Syndrome Lethal Multiple Pterygium Syndrome Loeys Dietz Syndrome Lowe Syndrome Marfan Syndrome McCune-Albright Syndrome Meckel Gruber Syndrome Megalencephalic Leukoencephalopathy with Subcortical Cysts Menkes Disease Metachromatic Leukodystrophy Miller Dieker Syndrome Mitochondrial Leber Hereditary Optic Neuropathy

18 xviii Table of Contents Möbius Syndrome Mowat Wilson Syndrome Mucopolysaccharidosis I (MPS I) Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis IV Mucopolysaccharidosis VI Mucolipidosis II Mucolipidosis III Multiple Endocrine Neoplasia Syndromes Multiple Epiphyseal Dysplasia Multiple Pterygium Syndrome Myotonic Dystrophy Type I Nail-Patella Syndrome Neonatal Herpes Simplex Infection Nephrogenic Diabetes Insipidus Netherton Syndrome Neu Laxova Syndrome Neural Tube Defects Neurofibromatosis I Neurofibromatosis Noonan Syndrome Oblique Facial Cleft Syndrome Oligohydramnios Sequence Omphalocele Oral Facial Digital Syndrome Osteogenesis Imperfecta Osteopetrosis Osteopoikilosis Otopalatodigital Spectrum Disorders Pachyonychia Congenita Pallister Killian Syndrome Phenylketonuria

19 Table of Contents xix Pierre Robin Sequence Polycystic Kidney Disease, Autosomal Dominant Type Polycystic Kidney Disease: Autosomal Recessive Type Popliteal Pterygium Syndrome Prader Willi Syndrome Progeria Prune Belly Syndrome Pseudoachondroplasia R(18) Syndrome Retinoid Embryopathy Rett Syndrome Rickets Rigid Spine Syndrome Roberts Syndrome Robinow Syndrome Rubinstein-Taybi Syndrome Saethre-Chotzen Syndrome Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis Schizencephaly Schmid Metaphyseal Chondrodysplasia Seckel Syndrome Severe Combined Immune Deficiency Short Rib Polydactyly Syndromes Sickle Cell Disease Silver Russell Syndrome Sirenomelia Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome Sotos Syndrome Spinal Muscular Atrophy Spondyloepiphyseal Dysplasia Stickler Syndrome

20 xx Table of Contents Sturge-Webber Syndrome Tay-Sachs Disease Tetrasomy 9p Syndrome Thalassemia Thanatophoric Dysplasia Thrombocytopenia-Absent Radius Syndrome Treacher-Collins Syndrome Trimethylaminuria Triploidy Trismus-Pseudocamptodactyly Syndrome Trisomy 8 Mosaicism Syndrome Trisomy 13 Syndrome Trisomy 18 Syndrome Tuberous Sclerosis Turner Syndrome Twin Twin Transfusion Syndrome Ulnar-Mammary Syndrome Urofacial Syndrome VATER (VACTERL) Association Von Hippel Lindau Disease Waardenburg Syndrome Weill Marchesani Syndrome Williams Syndrome Wolf-Hirschhorn Syndrome X-Linked Agammaglobulinemia X-Linked Ichthyosis XX Male XXX Syndrome XXXXX Syndrome XXXXY Syndrome XY Female XYY Syndrome