Management of genetic syndromes
By: edited by Suzanne B. Cassidy, Judith E. Allanson.
Contributors: Cassidy, Suzanne B.; Allanson, Judith E.
Edition: 2nd ed.
Publisher: Wiley-Liss
Published: 2005
Place of publication: Hoboken, N.J
Language: eng
Number of pages: 695
Subjects: Genetic Diseases, Inborn -- diagnosis; Abnormalities, Multiple -- diagnosis; Abnormalities, Multiple -- therapy; Genetic Diseases, Inborn -- therapy
Description: Clinical information on 30 of the most common genetic syndromes. Each chapter deals with a different condition, and all the chapters generally follow the same format. Introductory sections on incidence, diagnostic criteria, etiology and pathogenesis, diagnostic testing, and differential diagnosis are followed by detailed descriptions of the nature, evaluation, and treatment of major disease manifestations. The emphasis is on clinical evaluation and management, but few of the recommendations derive from randomized, controlled trials or rigorous epidemiologic studies. Rather, what is usually presented is the extensive anecdotal experience of the authors.
Notes: Includes bibliographical references and index.
Table of contents: title: Aarskog syndrome / Roger E. Stevenson; title: Achondroplasia / Richard M. Pauli; title: Alagille syndrome / Binita M. Kamath and Ian Krantz; title: Albinism / Richard A. King and C. Gail Summers; title: Angelman syndrome / Charles A. Williams; title: Arthrogryposis / Judith G. Hall; title: ATR-X / Richard J. Gibbons; title: Bardet-Biedl syndrome / Anne M. Slavotinek; title: Beckwith-Wiedemann syndrome / Rosanna Weksberg and Cheryl Shuman; title: CHARGE association / Christine A. Oley; title: Coffin-Lowry syndrome / Alasdair G.W. Hunter; title: Cornelia de Lange syndrome / David E. Fitzpatrick and Antonie D. Kline; title: Costello syndrome / Angela E. Lin, Karen W. Gripp and Bronwyn Kerr; title: Craniosynostosis / Karen W. Gripp and Elaine H. Zackai; title: Denys-Drash syndrome / Carol L. Clericuzio; title: Down syndrome / Alasdair G.W. Hunter; title: Ehlers-Danlos syndrome / Richard J. Wenstrup and Leah B. Hoechstetter; title: Fetal alcohol syndrome / Albert E. Chudley and Sally E. Longstaffe; title: Fetal anticonvulsants / Renata C. Gallagher, Kerry Kingham and H. Eugene Hoyme; title: Fragile X syndrome / Randi J. Hagerman; title: Gorlin syndrome (nevoid basal cell carcinoma syndrome) / Peter Farndon; title: Hereditary haemorrhagic telangiectasia / Mary E.M. Porteous; title: Holoprosencephaly / Andrea L. Gropman and Maximilian Muenke; title: Incontinetia pigmenti / Dian Donnai; title: Kabuki syndrome / Louanne Hudgins; title: Klinefelter syndrome / Joe Leigh Simpson ... [et al.]; title: Marfan syndrome / Iris Schrijver, Deborah M. Alcorn and Uta Francke; title: Myotonic dystrophy / Christine E.M. deDie Smulders, Frans G.I. Jennekens and Chris J. H"weler; title: Neurofibromatosis type 1 / David Viskochil; title: Noonan syndrome / Judith E. Allanson; title: Oculo-auriculo-vertebral spectrum / Robert J. Gorlin; title: Osteogenesis imperfecta / Joan C, Marin, Anne Letocha and Edith J. Chernoff; title: Pallister-Hall and Greig cephalopolysyndactyly syndrome / Leslie G. Biesecker; title: Prader-Willi syndrome / Suzanne B. Cassidy; title: Proteus syndrome / Leslie G. Biesecker; title: Rett syndrome / Eric E. Smeets and Connie T.R.M. Schrander-Stumpel; title: Robin sequence / Robert J. Shprintzen; title: Rubinstein-Taybi syndrome / Raoul C.M. Hennekam; title: Russell-Silver syndrome / Howard M. Saal; title: Smith-Lemli-Opitz syndrome / Christopher Cunniff and Theresa A. Grebe; title: Smith-Magenis syndrome / Ann C.M. Smith; title: Sotos syndrome / Trevor R.P. Cole; title: Stickler syndrome / Clair Francomano, Douglas J. Wilkin and Ruth M. Liberfarb; title: Terminal 22q- / Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers; title: Treacher-Collins syndrome / Marilyn C. Jones; title: Trisomy 13 and 18 syndromes / John C. Carey; title: Tuberous sclerosis / John R.W. Yates; title: Turner syndrome / Virginia P. Sybert; title: VATER syndrome / Bryan D. Hall; title: Velo-Cario-facial syndrome / Robert J. Shprintzen; title: Von Hippel Lindau syndrome / R. Neil Schimke and Debra L. Collins; title: WAGR syndrome / Carol L. Clericuzio; title: Williams syndrome / Colleen A. Morris; title: Wolf-Hirschhorn / Agatino Battaglia.