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Management of genetic syndromes

Author: Suzanne B Cassidy; Judith E Allanson
Publisher: Hoboken, N.J. : Wiley-Blackwell, ©2010.
Edition/Format:   eBook : Document : English : 3rd edView all editions and formats
Summary:
"It is imperative for primary care providers and genetic practitioners to have access to appropriate management guidelines for the diagnosis, genetic counseling and management of individuals of all ages affected by relatively common genetic syndromes. This revision of the critically acclaimed bestseller offers original insights into the medical management of 60 syndromes commonly seen by physicians. This fully  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Print version:
(DLC) 2009031379
(OCoLC)429588902
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Suzanne B Cassidy; Judith E Allanson
ISBN: 9780470893142 0470893141
OCLC Number: 632157665
Description: 1 online resource (xxii, 962 pages) : illustrations
Contents: Front Matter --
Introduction / Suzanne B Cassidy, Judith E Allanson --
Aarskog Syndrome / Roger E Stevenson --
Achondroplasia / Richard M Pauli --
Alagille Syndrome / Binita M Kamath, Ian D Krantz --
Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome / Richard A King, C Gail Summers --
Angelman Syndrome / Charles A Williams, Aditi Dagli --
Arthrogryposis / Judith G Hall --
ATR-X: a-Thalassemia Mental Retardation-X-Linked / Richard J Gibbons --
Bardet-Biedl Syndrome / Anne M Slavotinek --
Beckwith-Wiedemann Syndrome and Hemihyperplasia / Rosanna Weksberg, Cheryl Shuman, Bruce Beckwith --
Cardio-Facio-Cutaneous Syndrome / Maria In̊s Kavamura, Giovanni Neri --
CHARGE Syndrome / Christine A Oley --
Coffin-Lowry Syndrome / Alasdair G W Hunter --
Cohen Syndrome / Kate Chandler, Jill Clayton-Smith --
Cornelia de Lange Syndrome / David R Fitzpatrick, Antonie D Kline --
Costello Syndrome / Bronwyn Kerr, Karen W Gripp, Angela E Lin --
Craniosynostosis Syndromes / Karen W Gripp, Elaine H Zackai --
Deletion 1p36 Syndrome / Agatino Battaglia --
Deletion 4p: Wolf-Hirschhorn Syndrome / Agatino Battaglia --
Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/Digeorge Syndrome) / Donna M McDonald-McGinn, Taisa Kohut, Elaine H Zackai --
Deletion 22q13 Syndrome: Phelan-McDermid Syndrome / Mary C Phelan, Gail A Stapleton, R Curtis Rogers --
Denys-Drash and Frasier Syndromes / Carol L Clericuzio --
Down Syndrome / Alasdair G W Hunter --
Ehlers-Danlos Syndromes / Brad T Tinkle, Carrie L Atzinger --
Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder / Albert E Chudley, Sally E Longstaffe --
Fetal Anticonvulsant Syndrome / H Eugene Hoyme, Renata C Gallagher, Kerry Kingham --
Fragile X Syndrome and Premutation-Associated Disorders / Randi J Hagerman --
Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome / Peter Farndon --
Hereditary Hemorrhagic Telangiectasia / Mary EM Porteous, Jonathan N Berg --
Holoprosencephaly / Andrea L Gropman, Maximilian Muenke --
Incontinentia Pigmenti / Dian Donnai --
Kabuki Syndrome / Sarah Dugan, Louanne Hudgins --
Klinefelter Syndrome / Jeannie Visootsak, John M Graham, Carole Samango-Sprouse, Ronald Swerdloff, Joe Leigh Simpson --
Marfan Syndrome / Uta Francke --
Mowat-Wilson Syndrome / David Mowat, Meredith Wilson --
Myotonic Dystrophy Type 1 / Christine E M de Die-Smulders, Frans G I Jennekens, Carin G Faber --
Neurofibromatosis Type 1 / David Viskochil --
Noonan Syndrome / Judith E Allanson --
Oculo-Auriculo-Vertebral Spectrum / Koenraad Devriendt, Luc de Smet, Ingele Casteels --
Osteogenesis Imperfecta / Joan C Marini --
Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome / Leslie G Biesecker --
Prader-Willi Syndrome / Suzanne B Cassidy, Shawn E McCandless --
Proteus Syndrome / Leslie G Biesecker --
Hamartoma Tumor Syndrome / Emily Edelman, Charis Eng --
Rett Syndrome / Eric E Smeets, Connie T R M Schrander-Stumpel --
Robin Sequence / Howard M Saal --
Rubinstein-Taybi Syndrome / Raoul C M Hennekam --
Russell-Silver Syndrome / Howard M Saal --
Smith-Lemli-Opitz Syndrome / Christopher Cunniff --
Smith-Magenis Syndrome / Ann CM Smith, Andrea Gropman --
Sotos Syndrome / Trevor RP Cole --
Stickler Syndrome / Clair A Francomano --
Treacher Collins Syndrome and Related Disorders / Marilyn C Jones --
Trisomy 18 and Trisomy 13 Syndromes / John C Carey --
Tuberous Sclerosis Complex / Hope Northrup, Michael J Gambello, Kit Sing Au, Mary Kay Koenig --
Turner Syndrome / Marsha L Davenport --
Vater/Vacterl Association / Bryan D Hall --
von Hippel-Lindau Syndrome / R Neil Schimke, Debra L Collins --
WAGR Syndrome / Carol L Clericuzio --
Williams Syndrome / Colleen A Morris --
Index.
Responsibility: edited by Suzanne B. Cassidy, Judith E. Allanson.

Abstract:

It is imperative for primary care providers and genetic practitioners to have access to appropriate management guidelines for the diagnosis, genetic counseling, and management of individuals of all  Read more...

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Given that this is a book that has a useful place,potentially, in the clinic of any general paediatrician as willshow all the wear and tear features of being well turned and wellread." (Human Read more...

 
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