Cassidy and Allanson's Management of Genetic Syndromes (eBook, PDF)

Redaktion: Carey, John C.; Viskochil, David; Battaglia, Agatino; Cassidy, Suzanne B.

• Format: PDF

Produktbeschreibung

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.

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Produktdetails

• Verlag: John Wiley & Sons
• Seitenzahl: 1104
• Erscheinungstermin: 7. Oktober 2020
• Englisch
• ISBN-13: 9781119432647
• Artikelnr.: 60406416

Autorenporträt

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.

Inhaltsangabe

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: alpha 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
Elizabeth J. Bhoj and Elaine H. Zackai

18 Deletion 1p36 Syndrome 253
Agatino Battaglia

19 Deletion 4p: Wolf-Hirschhorn 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: Phelan-McDermid Syndrome 317
Katy Phelan, R. Curtis Rogers, and Luigi Boccuto

23 Denys-Drash 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 Ehlers-Danlos 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 Incontinentia Pigmenti 505
Dian Donnai and Elizabeth A. Jones

33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15) 515
Agatino Battaglia

34 Kabuki Syndrome 529
Sarah Dugan

35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosomal Conditions 539
Carole Samango-Sprouse, John M. Graham Jr, Debra R. Counts, and Jeannie Visootsak

36 Loeys-Dietz Syndrome 563
Aline Verstraeten, Harry C. Dietz, and Bart L. Loeys

37 Marfan Syndrome 577
Uta Francke

38 Mowat-Wilson Syndrome 597
David Mowat and Meredith Wilson

39 Myotonic Dystrophy Type 1 611
Isis B.T. Joosten, Kees Okkersen, Baziel G.M. van Engelen, and Catharina G. Faber

40 Neurofibromatosis Type 1 629
David Viskochil
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