Management of Genetic Syndromes

by Cassidy, Suzanne B.; Allanson, Judith E.

• ISBN13: 9780470191415
• ISBN10: 0470191414
• Edition: 3rd
• Format: Hardcover
• Copyright: 2010-04-05
• Publisher: Wiley-Blackwell

Summary

It is imperative for primary care providers and genetic practitioners to have access to appropriate management guidelines for the diagnosis, genetic counseling and management of individuals of all ages affected by relatively common genetic syndromes. This revision of the critically acclaimed bestseller offers original insights into the medical management of 60 syndromes commonly seen by physicians. This fully revised and expanded Third Edition provides family physicians, internists, specialty physicians, medical geneticists, genetic counselors, and families of patients with a more precise reference for study of physical manuifestations of certain syndromes.

Author Biography

Suzanne Cassidy, MD, is Clinical Professor of Pediatrics at University of California, San Francisco and at University of California, Irvine. She is a board-certified Medical Geneticist and Pediatrician who has focused on care of individuals with genetic syndromes throughout her 30-year academic and clinical career. She is devoted to educating medical geneticists, having served on the American Board of Medical Genetics and the founding Residency Review Committee for Medical Genetics, as well as directed genetics training programs in 4 institutions. She served on the board of directors of the American Society of Human Genetics and as a member of the Board of Scientific Counselors of National Center for Human Genome Research at NIH. She has been identified as one of 'America's Top Doctors'.

Judith E. Allanson, MD, is Chief of the Department of Genetics, and Professor of Pediatrics at the University of Ottawa.  She is a board-certified Medical Geneticist and Internist with longstanding interests in pattern recognition, syndrome identification and management.

Table of Contents

Foreword to the Third Edition

Foreword to the Second Edition

Foreword to the First Edition

Preface

List of Contributors

Dedication

Introduction

Aarskog Syndrome

Achrondroplasia

Alagille Syndrome

Albinism: Ocular and Oculocutaneous Albinism and Hermansky Pudlak Syndrome

Angelman Syndrome

Arthrogryposis

ATR-X (Alpha-Thalassemia Mental Retardation-X-Linked)

Bardet-Biedl Syndrome

Beckwith-Wiedemann Syndrome and Hemihyperplasia

Cardio-Facio-Cutaneous Syndrome

CHARGE Syndrome

Coffin-Lowry Syndrome

Cohen Syndrome

Cornelia de Lange Syndrome

Costello Syndrome

Craniosynostosis Syndromes

Deletion 1p36 Syndrome

Deletion 4p Syndrome: Wolf-Hirschhorn Syndrome

Deletion 22q11.2: Velo-Cardio-Facial Syndrome/DiGeorge Syndrome

Deletion 22q13 Syndrome : Phelan-McDermid Syndrome

Denys-Drash and Frasier Syndromes

Down Syndrome

Ehlers-Danlos Syndromes

Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder

Fetal Anticonvulsant Syndrome

Fragile X Syndrome and Premutation-Associated Disorders

Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)

Hereditary Hemorrhagic Telangiectasia

Holoprosencephaly

Incontinentia Pigmenti

Kabuki Syndrome

Klinefelter Syndrome

Marfan Syndrome

Mowat-Wilson Syndrome

Myotonic Dystrophy Type I

Neurofibromatosis Type 1

Noonan Syndrome

Oculo-Auriculo-Vertebral Spectrum

Osteogenesis Imperfecta

Pallister-Hall and Greig Cephalopolysyndactyly Syndromes

Prader-Willi Syndrome

Proteus Syndrome

PTEN-Hamartoma Tumor Syndromes

Rett Syndrome

Robin Sequence

Rubinstein-Taybi Syndrome

Russell-Silver Syndrome

Smith-Lemli-Opitz Syndrome

Smith-Magenis Syndrome

Sotos Syndrome

Stickler Syndrome

Treacher Collins Syndrome and Related Disorders

Trisomy 18 and Trisomy 13 Syndromes

Tuberous Sclerosis Complex

Turner Syndrome

VATER/VACTERL Association

Von Hippel-Lindau Syndrome

WAGR Syndrome

Williams Syndrome

Index

Table of Contents provided by Publisher. All Rights Reserved.