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Informationen zum Autor JOHN C. CAREY, Professor of Pediatrics, Department of Pediatrics, Division of Medical Genetics, University of Utah. AGATINO BATTAGLIA, Head of Research in Neuropsychiatric Genetics, IRCCS Stella Maris Foundation, Pisa, Italy. DAVID VISKOCHIL, Professor of Pediatrics, Department of Pediatrics, Division of Medical Genetics, University of Utah. SUZANNE B. CASSIDY, Clinical Professor of Pediatrics Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco. Klappentext Die 4. Auflage dieses Praktikerbuchs ist hochaktuell, bleibt aber ihren Ursprüngen treu. Zu jedem der 59 Krankheitsbilder gibt es aktuelle Informationen zu Identifikation (auch mit neuen Diagnosekriterien), genetischen Grundlagen, Diagnosetests und Management. Zusammenfassung The most recent update to one of the most essential references on medical geneticsCassidy and Allanson's Management of Genetic Syndromes, 4th Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes for students, clinicians, and researchers in the field of medical genetics. The 4th edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders.Each, "expert authored", chapter includes sections on:* Incidence* Diagnostic criteria* Etiology, pathogenesis and genetics* Diagnostic testing* Differential diagnosis* Manifestations and Management (by system)The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references.Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all health care professionals seeking to stay current on the routine care and management of individuals with genetic disorders. Inhaltsverzeichnis Foreword to the Fourth Edition xi Foreword to the Third Edition xiii Foreword to the Second Edition xv Foreword to the First Edition xvii Preface xix List of Contributors xxi Introduction xxvii 1 Aarskog Syndrome 1 Roger E. Stevenson 2 Achondroplasia 9 Richard M. Pauli and Lorenzo Botto 3 Alagille Syndrome 31 Henry C. Lin and Ian D. Krantz 4 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome 45 C. Gail Summers and David R. Adams 5 Angelman Syndrome 61 Charles A. Williams and Jennifer M. Mueller-Mathews 6 Arthrogryposis 75 Judith G. Hall 7 ATR-X: ¿ Thalassemia/Mental Retardation-X-Linked 93 Richard J. Gibbons 8 Bardet-Biedl Syndrome 107 Anne M. Slavotinek 9 Beckwith-Wiedemann Syndrome and Hemihyperplasia 125 Cheryl Shuman and Rosanna Weksberg 10 Cardio-Facio-Cutaneous Syndrome 147 Maria Inês Kavamura and Giovanni Neri 11 CHARGE Syndrome 157 Donna M. Martin, Christine A. Oley, and Conny M. van Ravenswaaij-Arts 12 Coffin-Lowry Syndrome 171 R. Curtis Rogers 13 Coffin-Siris Syndrome 185 Tomoki Kosho and Noriko Miyake 14 Cohen Syndrome 195 Kate E. Chandler 15 Cornelia de Lange Syndrome 207 Antonie D. Kline and Matthew Deardorff 16 Costello Syndrome 225 Bronwyn Kerr, Karen W. Gripp, and Emma M.M. Burkitt Wright 17 Craniosynostosis Syndromes 241 Eliz...
