Management of Genetic Syndromes

ISBN: 9780471308706 出版年：2010 页码：986 Suzanne B Cassidy Judith E Allanson Wiley

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.