Management of genetic syndromes
著者
書誌事項
Management of genetic syndromes
Wiley-Liss, c2005
2nd ed
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
This revised edition of its critically acclaimed predecessor incorporates new research findings and advances in the treatment of genetic disorders, including gene--directed therapies. Notably, each chapter incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies.
目次
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.
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