Management of Genetic Syndromes

by Editor: Suzanne B. Cassidy (University of California at Irvine, Orange, CA); Editor: Judith E. Allanson (Univ. of Ottawa, Children's Hospital of Eastern Ontario)

• ISBN13: 9780471312864
• ISBN10: 047131286X
• Format: Hardcover
• Copyright: 2001-01-01
• Publisher: Wiley-Liss

Summary

Although genetic disorders and syndromes are usually considered rare, their aggregate frequency makes them an inescapable part of medicine. It is crucial that affected individuals, their families, and their primary and specialty care physicians have an accurate and reliable resource so that the best care possible can be provided. Furthermore, with the remarkable surge of information that has become available due to networking of researchers and families, the development of support groups, and the availability of research reports and data, it is essential for one reference to contain all of this material organized in an easy-to-use manner. Management of Genetic Syndromes fills this vital need. Through an in-depth understanding of a specific disorder, physicians and parents can help patients reach their full potential, benefit from useful therapies, and avoid complications. Management of Genetic Syndromes is written by expert authors and offers a practical approach to the evaluation and management of the 30 most common genetic syndromes from birth to adulthood. It provides information about the spectrum of variation that can occur, risk of recurrence in the affected individual's siblings and offspring, and whether prenatal diagnosis and diagnostic testing are available. Management of Genetic Syndromes incorporates a wealth of knowledge and experience with each chapter containing detailed coverage of: * Incidence * Etiology and pathogenesis * Natural history * Diagnostic criteria * Diagnostic testing * Differential diagnosis * Evaluation * Management * Reference and resources This essential book will offer medical geneticists, clinical geneticists, human geneticists, pediatricians, and other health care professionals insight into treatment and management, as well as the development of new interventions and therapies.

Table of Contents

Foreword	xi
Preface	xv
Contributors	xvii
Introduction	1	(8)
Suzanne B. Cassidy
Judith E. Allanson
Achondroplasia	9	(24)
Richard M. Pauli
Angelman Syndrome	33	(16)
Charles A. Williams
Beckwith-Wiedemann Syndrome	49	(22)
Rosanna Weksberg
Cheryl Shuman
CHARGE Association	71	(14)
Christine A. Oley
Cornelia de Lange Syndrome	85	(18)
Maggie Ireland
Down Syndrome	103	(28)
Alasdair G. W. Hunter
The Ehlers-Danlos Syndromes	131	(20)
Richard J. Wenstrup
Leah B. Hoechstetter
Fetal Alcohol Syndrome	151	(14)
Sterling K. Clarren
Susan J. Astley
Fragile X Syndrome	165	(20)
Randi J. Hagerman
Incontinentia Pigmenti	185	(10)
Dian Donnai
Klinefelter Syndrome	195	(12)
Arthur Robinson
Bruce G. Bender
Mary G. Linden
Marfan Syndrome	207	(22)
Iris Schrijver
Deborah M. Alcorn
Uta Francke
Neurofibromatosis Type 1	229	(24)
David Viskochil
Noonan Syndrome	253	(16)
Judith E. Allanson
Oculo-auriculo-vertebral Spectrum	269	(12)
Robert J. Gorlin
Osteogenesis Imperfecta	281	(20)
Joan C. Marini
Edith J. Chernoff
Prader-Willi Syndrome	301	(22)
Suzanne B. Cassidy
Robin Sequence	323	(14)
Robert J. Shprintzen
Russell-Silver Syndrome	337	(12)
Howard M. Saal
Smith-Lemli-Opitz Syndrome	349	(14)
Christopher Cunniff
Smith-Magenis Syndrome	363	(26)
Ann C. Smith
Andrea Gropman
Sotos Syndrome	389	(16)
Trevor R.P. Cole
Stickler Syndrome	405	(12)
Douglas J. Wilkin
Ruth M. Liberfarb
Clair A. Francomano
Trisomy 18 and Trisomy 13 Syndromes	417	(20)
John C. Carey
Tuberous Sclerosis	437	(22)
Robert F. Mueller
Turner Syndrome	459	(26)
Virginia P. Sybert
VATER Association	485	(10)
Bryan D. Hall
Velo-cardio-facial Syndrome	495	(22)
Robert J. Shprintzen
Williams Syndrome	517	(18)
Colleen A. Morris
Index	535