Title Details

Foreword.

Preface.

Contributors.

Introduction (S. Cassidy & J. Allanson).

Achondroplasia (R. Pauli).

Angelman Syndrome (C. Williams).

Beckwith-Wiedemann Syndrome (R. Weksberg & C. Shuman).

CHARGE Association (C. Oley).

Corneiia de Lange Syndrome (M. Ireland).

Down Syndrome (A. Hunter).

The Ehlers-Danlos Syndromes (R. Wenstrup & L. Hoechstetter).

Fetal Alcohol Syndrome (S. Clarren & S. Astley).

Fragile X Syndrome (R. Hagerman).

Incontinentia Pigmenti (D. Donnai).

Klinefelter Syndrome (A. Robinson, et al.).

Marfan Syndrome (I. Schrijver, et al.).

Neurofibromatosis Type 1 (D. Viskochil).

Noonan Syndrome (J. Allanson).

Oculo-Auriculo-Vertebral Spectrum (R. Gorlin).

Osteogenesis Imperfecta (J. Marini & E. Chernoff).

Prader-Willi Syndrome (S. Cassidy).

Robin Sequence (R. Shprintzen).

Russell-Silver Syndrome (H. Saal).

Smith-Lemli-Opitz Syndrome (C. Cunniff).

Smith-Magenis Syndrome (A. Smith & A. Gropman).

Sotos Syndrome (T. Cole).

Stickler Syndrome (D. Wilkin, et al.).

Trisomy 18 and Trisomy 13 Syndromes (J. Carey).

Tuberous Sclerosis (R. Mueller).

Turner Syndrome (V. Sybert).

VATER Association (B. Hall).

Velo-cardio-facial Syndrome (R. Shprintzen).

Williams Syndrome (C. Morris).

Index.

"...a trove of valuable clinical information on...the most common genetic syndromes...it should certainly be on the shelf of every clinical geneticist and in the library of every pediatric tertiary care facility..." (New England Journal of Medicine, Vol. 345, No. 6, August 9, 2001)

"...an unparalleled collection of knowledge...unique, offering a gold mine of information to the generalist pediatrician, as well as to the subspecialist.... I am sure that geneticists and pediatricians will be glad to have this book close at hand..." (American Journal of Medical Genetics, 103:350, 2001)

"Covering 30 common genetic syndromes, this book contains information on incidence, etiology, and pathogenesis, natural history, diagnostic criteria, the spectrum of variation, risk of recurrence...and the availability of prenatal diagnosis..." (SciTech Book News, Vol. 25, No. 4, December 2001)

"This book will be very popular with geneticists in training.... It will also be a useful reference for paediatricians and primary care doctors needing a reliable balanced source of information" (Human Genetics, No. 110 2002)

"...This book will be very popular..." (Human Genetics, No.110, 2002)

"a trove of valuable clinical information on 30 of the most commone genetic syndromes...it should certainly be on the shelf of every clinical geneticist and in the library of every pediatric tertiary care facility." (J. M. Friedman, M.D., Ph.D., University of British Columbia, New England Journal of Medicine, Vol. 345, No. 6, Aug. 9, 2001)

"...will be very popular with geneticists in training, providing?a comprehensive review of many important genetic syndromes...will also be a useful reference for pediatricians and primary care doctors needing a reliable balanced source of information..." (Human Genetics, Vol. 110, Published On-line: February 13, 2002)

"...a detailed practical guide for management of patients with genetic conditions?an asset to the bookshelf of any healthcare provider?also an excellent educational text..." (Journal of Genetic Counseling, Vol. 12, No. 4, August 2003)

I found the book to be a well-edited collection of the management of some common and some quite rare congenital and genetic disorders. The authors of the chapters have been well chosen and have done a marvelous job of reviewing the disorders themselves and bringing the reader up to date on what if anything can be done for them. All-in-all it is to be recommended for all clinical geneticists and genetic counselors as an invaluable resource.

Cassidy and Allanson have assembled a talented group of authors to address the more common genetic disorders. The chapters are extremely well organized and each emphasizes not only diagnostic techniques and differential diagnosis, but also patient management. The generalist will find a wealth of practical information readily available and accessible. The clinical geneticist will discover and rediscover valuable "pearls" within this text. —Edward R.B. McCabe, Department of Pediatrics, Mattel Children's Hospital at UCLA