Management of Genetic Syndromes

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Clinical information on 30 of the most common genetic syndromes. Each chapter deals with a different condition, and all the chapters generally follow the same format. Introductory sections on incidence, diagnostic criteria, etiology and pathogenesis, diagnostic testing, and differential diagnosis are followed by detailed descriptions of the nature, evaluation, and treatment of major disease manifestations. The emphasis is on clinical evaluation and management, but few of the recommendations derive from randomized, controlled trials or rigorous epidemiologic studies. Rather, what is usually presented is the extensive anecdotal experience of the authors.

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Roger E Stevenson
Albinism and HermanskyPudlak Syndrome
Angelman Syndrome

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About the author (2005)

Dr. Suzanne Cassidy is Chief, Division of Human Genetics, Professor of Clinical Pediatrics, and Director of the Residency Training Program in Medical Genetics at the 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 23-year academic career. In particular, her research on the diagnostic criteria, genetic testing, delineation of clinical findings and natural history, and effective management of Prader-Willi syndrome have made her an internationally well-recognized expert on this condition. She has also devoted effort to education of medical geneticists, serving on the American Board of Medical Genetics and the founding Residency Review Committee for Medical Genetics, as well as directing 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’.

Dr. Judith E. Allanson is Chief, Department of Genetics, and Medical Director, Genetics Patient Service Unit, at the Children's Hospital of Eastern Ontario. She also has an appointment as Professor, Department of Pediatrics at the University of Ottawa.  She is a clinical geneticist with interests in syndrome identification and pattern recognition.

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