Management of Genetic Syndromes 3e

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.

FOREWORD TO THE SECOND EDITION. FOREWORD TO THE FIRST EDITION. PREFACE. 1. Introduction (Suzanne B. Cassidy and Judith E. Allanson). 2. Aarskog Syndrome (Roger E. Stevenson). 3. Achondroplasia (Richard M. Pauli). 4. Alagille Syndrome (Binita M. Kamath and Ian D. Krantz). 5. Albinism and Hermansky-Pudlak Syndrome (Richard A. King and C. Gail Summers). 6. Angelman Syndrome (Charles A. Williams). 7. Arthrogryposis (Judith G. Hall). 8. ATR-X (Richard J. Gibbons). 9. Bardet-Biedl Syndrome (Anne M. Slavotinek). 10. Beckwith-Wiedemann Syndrome and Hemihyperplasia (Rosanna Weksberg and Cheryl Shuman). 11. CHARGE Association (Christine A. Oley). 12. Coffin-Lowry Syndrome (Alasdair G. W. Hunter). 13. Cornelia de Lange Syndrome (David R. Fitzpatrick and Antonie D. Kline). 14. Costello Syndrome (Angela E. Lin, Karen W. Gripp, and Bronwyn Kerr). 15. Craniosynostosis Syndromes (Karen W. Gripp and Elaine H. Zackai). 16. Deletion 22q13 Syndrome (Phelan-McDermid Syndrome) (Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers). 17. Denys-Drash and Frasier Syndromes (Carol L. Clericuzio). 18. Down Syndrome (Alasdair G.W. Hunter). 19. Ehlers-Danlos Syndromes (Richard J. Wenstrup and Leah B. Hoechstetter). 20. Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder (Albert E. Chudley and Sally E. Longstaffe). 21. Fetal Anticonvulsant Syndrome (Renata C. Gallagher, Kerry Kingham and H. Eugene Hoyme). 22. Fragile X Syndrome (Randi J. Hagerman). 23. Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome) (Peter Farndon). 24. Hereditary Hemorrhagic Telangiectasia (Mary E. M. Porteous and Jonathan N. Berg). 25. Holoprosencephaly (Andrea L. Gropman and Maximilian Muenke). 26. Incontinentia Pigmenti (Dian Donnai). 27. Kabuki Syndrome (Louanne Hudgins). 28. Klinefelter Syndrome (Joe Leigh Simpson, John M. Graham, Jr., Carole Samango-Sprouse, and Ronald Swerdloff). 29. Marfan Syndrome (Iris Schrijver, Deborah M. Alcorn, and Uta Francke). 30. Myotonic Dystrophy Type 1 (Christine E. M. De Die-Smulders, Frans G. I. Jennekens, and Chris J. H..oweler). 31. Neurofibromatosis Type 1 (David Viskochil). 32. Noonan Syndrome (Judith E. Allanson). 33. Oculo-Auriculo-Vertebral Spectrum (Robert J. Gorlin). 34. Osteogenesis Imperfecta (Joan C. Marini, Anne D. Letocha, and Edith J. Chernoff). 35. Pallister-Hall and Greig Cephalopolysyndactyly Syndromes (Leslie G. Biesecker). 36. Prader-Willi Syndrome (Suzanne B. Cassidy and Shawn E. McCandless). 37. Proteus Syndrome (Leslie G. Biesecker). 38. Rett Syndrome (Eric E. Smeets and Connie T. R. M. Schrander-Stumpel). 39. Robin Sequence (Robert J. Shprintzen). 40. Rubinstein-Taybi Syndrome (Raoul C. M. Hennekam). 41. Russell-Silver Syndrome (Howard M. Saal). 42. Smith-Lemli-Opitz Syndrome (Christopher Cunniff and Theresa A. Grebe). 43. Smith-Magenis Syndrome (Ann C. M. Smith and Andrea Gropman). 44. Sotos Syndrome (Trevor R. P. Cole). 45. Stickler Syndrome (Clair Francomano, Douglas J. Wilkin, and Ruth M. Liberfarb). 46. Treacher Collins Syndrome (Marilyn C. Jones). 47. Trisomy 18 and Trisomy 13 Syndromes (John C. Carey). 48. Tuberous Sclerosis (John R. W. Yates). 49. Turner Syndrome (Virginia P. Sybert). 50. VATER Association (Bryan D. Hall). 51. Velo-Cardio-Facial Syndrome (Robert J. Shprintzen). 52. Von Hippel-Lindau Syndrome (R. Neil Schimke and Debra L. Collins). 53. WAGR Syndrome (Carol L. Clericuzio). 54. Williams Syndrome (Colleen A. Morris). 55. Wolf-Hirschhorn (4p-) Syndrome (Agatino Battaglia). INDEX.