基本説明
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.
Full Description
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 a critically acclaimed bestseller offers original insights into the medical management of 60 syndromes commonly seen by physicians. Fully revised and expanded, the 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.
Contents
Foreword to the Third Edition. Foreword to the Second Edition. Foreword to the First Edition. Preface. Contributors. 1 Introduction (Suzanne B. Cassidy and Judith E.Allanson). 2 Aarskog Syndrome (Roger E. Stevenson). 3 Achrondroplasia (Richard M. Pauli). 4 Alagille Syndrome (Binita M. Kamath and Ian D.Krantz). 5 Albinism: Ocular and Oculocutaneous Albinism andHermansky-Pudlak Syndrome (Richard A. King and C. GailSummers). 6 Angelman Syndrome (Charles A. Williams and AditiDagli). 7 Arthrogryposis (Judith G. Hall). 8 ATR-X ( -Thalassemia Mental Retardation-X-Linked)(Richard J. Gibbons). 9 Bardet-Biedl Syndrome (Anne M. Slavotinek). 10 Beckwith-Wiedemann Syndrome and Hemihyperplasia (RosannaWeksberg, Cheryl Shuman, and Bruce Beckwith). 11 Cardio-Facio-Cutaneous Syndrome (Maria Ines Kavamuraand Giovanni Neri). 12 CHARGE Syndrome (Christine A. Oley). 13 Coffin-Lowry Syndrome (Alasdair G.W. Hunter). 14 Cohen Syndrome (Kate Chandler and JillClayton-Smith). 15 Cornelia de Lange Syndrome (David R. Fitzpatrick andAntonie D. Kline). 16 Costello Syndrome (Bronwyn Kerr, Karen W. Gripp and AngelaE. Lin). 17 Craniosynostosis Syndromes (Karen W. Gripp and Elaine H.Zackai). 18 Deletion 1p36 Syndrome (Agatino Battaglia). 19 Deletion 4p: Wolf-Hirschhorn Syndrome (AgatinoBattaglia). 20 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorgeSyndrome) (Donna M. McDonald-McGinn, Taisa Kohut and Elaine H.Zackai). 21 Deletion 22q13 Syndrome: Phelan-McDermid Syndrome (Mary C.Phelan, Gail A. Stapleton and R. Curtis Rogers). 22 Denys-Drash and Frasier Syndromes (Carol L.Clericuzio). 23 Down Syndrome (Alasdair G.W. Hunter). 24 Ehlers-Danlos Syndromes (Brad T. Tinkle and Carrie L.Atzinger). 25 Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder(Albert E. Chudley and Sally E. Longstaffe). 26 Fetal Anticonvulsant Syndrome (H. Eugene Hoyme, Renata C.Gallagher, and Kerry Kingham). 27 Fragile X Syndrome and Premutation-Associated Disorders(Randi J. Hagerman). 28 Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)(Peter Farndon). 29 Hereditary Hemorrhagic Telangiectasia (Mary E.M. Porteousand Jonathan N. Berg). 30 Holoprosencephaly (Andrea L. Gropman and MaximilianMuenke). 31 Incontinentia Pigmenti (Dian Donnai). 32 Kabuki Syndrome (Sarah Dugan and Louanne Hudgins). 33 Klinefelter Syndrome (Jeannie Visootsak, John M. GrahamJr., Carole Samango-Sprouse, Ronald Swerdloff, and Joe LeighSimpson). 34 Marfan Syndrome (Uta Francke). 35 Mowat-Wilson Syndrome (David Mowat and MeredithWilson). 36 Myotonic Dystrophy Type I (Christine E.M. de Die-Smulders,Frans G.I. Jennekens and Carin G. Faber). 37 Neurofibromatosis Type 1 (David Viskochil). 38 Noonan Syndrome (Judith E. Allanson). 39 Oculo-Auriculo-Vertebral Spectrum (Koenraad Devriendt, Lucde Smet and Ingele Casteels). 40 Osteogenesis Imperfecta (Joan C. Marini). 41 Pallister-Hall and Greig Cephalopolysyndactyly Syndromes(Leslie G. Biesecker). 42 Prader-Willi Syndrome (Suzanne B. Cassidy and Shawn E.McCandless). 43 Proteus Syndrome (Leslie G. Biesecker). 44 PTEN Hamartoma Tumor Syndromes (Emily Edelman and CharisEng). 45 Rett Syndrome (Eric E. Smeets and Connie T.R.M.Schrander-Stumpel). 46 Robin Sequence (Howard M. Saal). 47 Rubinstein-Taybi Syndrome (Raoul C.M. Hennekam). 48 Russell-Silver Syndrome (Howard M. Saal). 49 Smith-Lemli-Opitz Syndrome (Christopher Cunniff). 50 Smith-Magenis Syndrome (Ann C.M. Smith and AndreaGropman). 51 Sotos Syndrome (Trevor R.P. Cole). 52 Stickler Syndrome (Clair A. Francomano). 53 Treacher Collins Syndrome and Related Disorders (MarilynC. Jones). 54 Trisomy 18 and Trisomy 13 Syndromes (John C. Carey). 55 Tuberous Sclerosis Complex (Hope Northrup, Michael J.Gambello, Kit Sing Au, and Mary Kay Koenig). 56 Turner Syndrome (Marsha L. Davenport). 57 Vater/Vacterl Association (Bryan D. Hall). 58 von Hippel-Lindau Syndrome (R. Neil Schimke and Debra L.Collins). 59 WAGR Syndrome (Carol L. Clericuzio). 60 Williams Syndrome (Colleen A. Morris). INDEX.
