Management of Genetic Syndromes

by Cassidy, Suzanne B.; Allanson, Judith E.

• ISBN13: 9780470893159
• ISBN10: 047089315X
• Edition: 3rd
• Format: eBook
• Copyright: 2010-05-18
• Publisher: Wiley-Blackwell

Summary

The American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since the first edition's publication, advances have been made in diagnosis, understanding, and treatment of genetic syndromes, resulting in the potential for a higher quality of life for individuals affected.

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.

Edited by two of the field's most highly esteemed experts, each chapter is written by an expert with extensive direct professional experience with that disorder and includes detailed coverage of:

• Incidence
• Etiology and pathogenesis
• Natural history
• Diagnostic criteria and diagnostic testing, including photographs of distinctive physical findings
• Differential diagnosis
• Evaluation
• Management throughout life
• References and resources, including family support organizations

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.

Author Biography

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.

Table of Contents

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.