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MANAGEMENT OF GENETIC SYNDROMES
THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS
Cassidy and Allanson's Management of Genetic Syndromes, Fourth 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 in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth 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.
Written by experts, each 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 healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Autorentext
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
THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson's Management of Genetic Syndromes, Fourth 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 in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth 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. Written by experts, each chapter includes sections on:
Zusammenfassung
The most recent update to one of the most essential references on medical genetics
Cassidy 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:
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.
Inhalt
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 HermanskyPudlak 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 BardetBiedl Syndrome 107
Anne M. Slavotinek
9 BeckwithWiedemann 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 CoffinLowry Syndrome 171
R. Curtis Rogers
13 CoffinSiris 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
Elizabeth J. Bhoj and Elaine H. Zackai
18 Deletion 1p36 Syndrome 253
Agatino Battaglia
19 Deletion 4p: WolfHirschhorn Syndrome 265
Agatino Battaglia
20 Deletion 5p Syndrome 281
Antonie D. Kline, Joanne M. Nguyen, and Dennis J. Campbell
21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome) 291
Donna M. McDonald-McGinn, Stephanie Jeong, Michael-John McGinn II, Elaine H. Zackai, and Marta Unolt
22 Deletion 22q13 Syndrome: PhelanMcDermid Syndrome 317
Katy Phelan, R. Curtis Rogers, and Luigi Boccuto
23 DenysDrash Syndrome, Frasier Syndrome, and WAGR Syndrome (WT1-related Disorders) 335
Joyce T. Turner and Jeffrey S. Dome
24 Down Syndrome 355
Aditi Korlimarla, Sarah J. Hart, Gail A. Spiridigliozzi, and Priya S. Kishnani
25 EhlersDanlos Syndromes 389
Brad T. Tinkle
26 Fetal Alcohol Spectrum Disorders 405
H. Eugene Hoyme and Prachi E. Shah
27 Fetal Anticonvulsant Syndrome 425
Elizabeth A. Conover, Omar Abdul-Rahman, and H. Eugene Hoyme
28 Fragile X Syndrome and Premutation-Associated Disorders 443
Randi J. Hagerman
29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome 459
Peter A. Farndon and D. Gareth Evans
30 Hereditary Hemorrhagic Telangiectasia 475
Jonathan N. Berg and Anette D. Kjeldsen
31 Holoprosencephaly 487
Paul Kruszka, Andrea L. Gropman, and Maximilian Muenke
32 Incontinent…