The bestselling guide to the medical management of common
genetic syndromes –now fully revised and expanded
A review in the American Journal of Medical Genetics
heralded the first edition of Management of Genetic
Syndromes as an ‘unparalleled collection of knowledge.’ Since
publication of the first edition, improvements in the molecular
diagnostic testing of genetic conditions have greatly facilitated
the identification of affected individuals. This thorough revision
of the critically acclaimed bestseller offers original insights
into the medical management of sixty common genetic syndromes seen
in children and adults, and incorporates new research findings and
the latest advances in diagnosis and treatment of these
disorders.
Expanded to cover five new syndromes, this comprehensive new
edition also features updates of chapters from the previous
editions. Each chapter is written by an expert with extensive
direct professional experience with that disorder and incorporates
thoroughly updated material on new genetic findings, consensus
diagnostic criteria, and management strategies. Edited by two of
the field’s most highly esteemed experts, this landmark volume
provides:
* A precise reference of the physical manifestations of common
genetic syndromes, clearly written for professionals and
families
* Extensive updates, particularly in sections on diagnostic
criteria and diagnostic testing, pathogenesis, and management
* A tried-and-tested, user-friendly format, with each chapter
including information on incidence, etiology and pathogenesis,
diagnostic criteria and testing, and differential diagnosis
* Up-to-date and well-written summaries of the manifestations
followed by comprehensive management guidelines, with specific
advice on evaluation and treatment for each system affected,
including references to original studies and reviews
* A list of family support organizations and resources for
professionals and families
Management of Genetic Syndromes, Third Edition is a
premier source to guide family physicians, pediatricians,
internists, medical geneticists, and genetic counselors in the
clinical evaluation and treatment of syndromes. It is also the
reference of choice for ancillary health professionals, educators,
and families of affected individuals looking to understand
appropriate guidelines for the management of these disorders.
From a review of the first edition:
‘An unparalleled collection of knowledge . . . unique, offering
a gold mine of information.’ –American Journal of Medical
Genetics
Tabella dei contenuti
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-Mc Dermid 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. Porteousand 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.Mc Candless).
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.
Circa l’autore
Suzanne Cassidy, MD, is Clinical Professor of Pediatrics at
University of California, San Francisco and at 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 30-year academic and clinical career. She
is devoted to educating medical geneticists, having served on the
American Board of Medical Genetics and the founding Residency
Review Committee for Medical Genetics, as well as directed 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’.
Judith E. Allanson, MD, is Chief of the Department of
Genetics, and Professor of Pediatrics at the University of
Ottawa. She is a board-certified Medical Geneticist and
Internist with longstanding interests in pattern recognition,
syndrome identification and management.
Altri ebook dello stesso autore / Editore
144.265 Ebook in questa categoria
