Research Catalog

Title

Management of genetic syndromes / edited by Suzanne B. Cassidy, Judith E. Allanson.

Publication

Hoboken, N.J. : Wiley-Liss, [2005], ©2005.

Supplementary Content

Publisher description

Items in the Library & Off-site

Holdings

Details

Additional Authors

• Cassidy, Suzanne B.
• Allanson, Judith E.

Description

xvii, 695 pages : illustrations; 29 cm

Summary

"Management of Genetic Syndromes, Second Edition incorporates all the most recent developments in knowledge about and management of the most common genetic syndromes seen in children and adults. Expanded to cover twenty-five new syndromes, this comprehensive new edition also features thorough updates of chapters from the first edition." "Written to be clear and accessible to medical generalists and specialists, as well as allied health and education professionals and families, Management of Genetic Syndromes, Second Edition provides a unique and up-to-date resource for this rapidly developing field."--BOOK JACKET.

Subjects

• Abnormalities, Multiple > therapy
• Abnormalities, Multiple > diagnosis
• Genetic disorders
• Genetic Diseases, Inborn > diagnosis
• Genetic Diseases, Inborn > therapy

Bibliography (note)

• Includes bibliographical references and index.

Contents

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 G. 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. Howeler -- 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. Shpirntzen -- 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.

ISBN

0471308706 (cloth : alk. paper)

LCCN

2004004693

OCLC

• ocm54537905
• SCSB-5124952

Owning Institutions

Columbia University Libraries