Management of Genetic Syndromes

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  • Edition: 3rd
  • Format: Hardcover
  • Copyright: 2010-04-05
  • Publisher: Wiley-Blackwell
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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
List of Contributors
Aarskog Syndrome
Alagille Syndrome
Albinism: Ocular and Oculocutaneous Albinism and Hermansky Pudlak Syndrome
Angelman Syndrome
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
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
Von Hippel-Lindau Syndrome
WAGR Syndrome
Williams Syndrome
Table of Contents provided by Publisher. All Rights Reserved.

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