Management of Genetic Syndromes

Management of Genetic Syndromes

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

Published Online: 17 MAY 2010

Print ISBN: 9780470191415

Online ISBN: 9780470893159

DOI: 10.1002/9780470893159

About this Book

The bestselling guide to the medical management of common genetic syndromes -now fully revised and expanded

A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders.

Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides:

  • A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families

  • Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management

  • A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis

  • Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews

  • A list of family support organizations and resources for professionals and families

Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders.

From a review of the first edition:

"An unparalleled collection of knowledge . . . unique, offering a gold mine of information." -American Journal of Medical Genetics

Table of contents

    1. You have free access to this content
    2. Chapter 1

      Introduction (pages 1–7)

      Suzanne B. Cassidy and Judith E. Allanson

    3. Chapter 16

      Costello Syndrome (pages 211–225)

      Bronwyn Kerr, Karen W. Gripp and Angela E. Lin

    4. Chapter 26

      Fetal Anticonvulsant Syndrome (pages 381–395)

      H. Eugene Hoyme, Renata C. Gallagher and Kerry Kingham

    5. Chapter 33

      Klinefelter Syndrome (pages 479–494)

      Jeannie Visootsak, John M. Graham, Carole Samango-Sprouse, Ronald Swerdloff and Joe Leigh Simpson

    6. Chapter 36

      Myotonic Dystrophy Type 1 (pages 529–546)

      Christine E. M. de Die-Smulders, Frans G. I. Jennekens and Carin G. Faber

    7. Chapter 45

      Rett Syndrome (pages 677–691)

      Eric E. Smeets and Connie T. R. M. Schrander-Stumpel

    8. Chapter 55

      Tuberous Sclerosis Complex (pages 825–845)

      Hope Northrup, Michael J. Gambello, Kit Sing Au and Mary Kay Koenig

    9. You have free access to this content