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Title Management of genetic syndromes / edited by Suzanne B. Cassidy, Judith E. Allanson
Imprint Hoboken, N.J. : Wiley-Blackwell, [2010]
©2010
book jacket
Edition Third edition
Descript 1 online resource (xxii, 962 pages) : illustrations
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
Note 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 Iꮳ 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
Includes bibliographical references and index
"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 revised and expanded Third Edition provides family physicians, internists, specialty physicians, medical geneticists, genetic counselors, and families of patients with a more precise reference for study of physical manuifestations of certain syndromes"--Provided by publisher
Online resource; title from PDF title page (ProQuest, viewed April 19, 2018)
Link Print version: Management of genetic syndromes. 3rd ed. Hoboken, N.J. : Wiley-Blackwell, 2010 9780470191415 (DLC) 2009031379 (OCoLC)429588902
Subject Genetic disorders
Genetic Diseases, Inborn -- diagnosis
Abnormalities, Multiple -- diagnosis
Abnormalities, Multiple -- therapy
Genetic Diseases, Inborn -- therapy
HEALTH & FITNESS -- Diseases -- General. bisacsh
MEDICAL -- Clinical Medicine. bisacsh
MEDICAL -- Diseases. bisacsh
MEDICAL -- Evidence-Based Medicine. bisacsh
MEDICAL -- Internal Medicine. bisacsh
Genetic disorders. fast
Erfelijke ziekten. gtt
Aanleg. gtt
Electronic books
Alt Author Cassidy, Suzanne B., editor
Allanson, Judith E., editor
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