Management of genetic syndromes /

Table of 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.…”
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