Management of Genetic Syndromes

ISBN 13: 9780471308706

Management of Genetic Syndromes

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9780471308706: Management of Genetic Syndromes
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This revised edition of its critically acclaimed predecessor incorporates new research findings and advances in the treatment of genetic disorders, including gene-directed therapies. Notably, each chapter incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies.

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From the Back Cover:

The American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since the first edition's publication, advances have been made in diagnosis, understanding, and treatment of genetic syndromes, resulting in the potential for a higher quality of life for individuals affected.

Management of Genetic Syndromes, Second Edition incorporates all the most recent developments in knowledge about and management of the most common genetic syndromes seen in children and adults. Expanded to cover twenty-five new syndromes, this comprehensive new edition also features thorough updates of chapters from the first edition.

Edited by two of the field's most highly esteemed experts, each chapter is written by an expert with extensive direct professional experience with that disorder and includes detailed coverage of:

  • Incidence
  • Etiology and pathogenesis
  • Natural history
  • Diagnostic criteria and diagnostic testing, including photographs of distinctive physical findings
  • Differential diagnosis
  • Evaluation
  • Management throughout life
  • References and resources, including family support organizations

Written to be clear and accessible to medical generalists and specialists, as well as allied health and education professionals and families, Management of Genetic Syndromes, Second Edition provides a unique and up-to-date resource for this rapidly developing field.

About the Author:

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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Suzanne B. Cassidy (Editor), Judith E. Allanson (Editor)
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