Cassidy and Allanson's Management of Genetic Syndromes / Edition 4 available in Hardcover, eBook
Cassidy and Allanson's Management of Genetic Syndromes / Edition 4
- ISBN-10:
- 1119432677
- ISBN-13:
- 9781119432678
- Pub. Date:
- 01/27/2021
- Publisher:
- Wiley
Cassidy and Allanson's Management of Genetic Syndromes / Edition 4
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Overview
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.
Product Details
ISBN-13: | 9781119432678 |
---|---|
Publisher: | Wiley |
Publication date: | 01/27/2021 |
Edition description: | 4th ed. |
Pages: | 1104 |
Sales rank: | 971,596 |
Product dimensions: | 8.90(w) x 11.00(h) x 1.80(d) |
About the Author
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.
Table of Contents
Foreword to the Fourth Edition xiForeword 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 1Roger E. Stevenson
2 Achondroplasia 9Richard M. Pauli and Lorenzo Botto
3 Alagille Syndrome 31Henry C. Lin and Ian D. Krantz
4 Albinism: Ocular and Oculocutaneous Albinism and Hermansky–Pudlak Syndrome 45C. Gail Summers and David R. Adams
5 Angelman Syndrome 61Charles A. Williams and Jennifer M. Mueller-Mathews
6 Arthrogryposis 75Judith G. Hall
7 ATR-X: α Thalassemia/Mental Retardation-X-Linked 93Richard J. Gibbons
8 Bardet–Biedl Syndrome 107Anne M. Slavotinek
9 Beckwith–Wiedemann Syndrome and Hemihyperplasia 125Cheryl Shuman and Rosanna Weksberg
10 Cardio-Facio-Cutaneous Syndrome 147Maria Inês Kavamura and Giovanni Neri
11 CHARGE Syndrome 157Donna M. Martin, Christine A. Oley, and Conny M. van Ravenswaaij-Arts
12 Coffin–Lowry Syndrome 171R. Curtis Rogers
13 Coffin–Siris Syndrome 185Tomoki Kosho and Noriko Miyake
14 Cohen Syndrome 195Kate E. Chandler
15 Cornelia de Lange Syndrome 207Antonie D. Kline and Matthew Deardorff
16 Costello Syndrome 225Bronwyn Kerr, Karen W. Gripp, and Emma M.M. Burkitt Wright
17 Craniosynostosis Syndromes 241Elizabeth J. Bhoj and Elaine H. Zackai
18 Deletion 1p36 Syndrome 253Agatino Battaglia
19 Deletion 4p: Wolf–Hirschhorn Syndrome 265Agatino Battaglia
20 Deletion 5p Syndrome 281Antonie D. Kline, Joanne M. Nguyen, and Dennis J. Campbell
21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome) 291Donna M. McDonald-McGinn, Stephanie Jeong, Michael-John McGinn II, Elaine H. Zackai, and Marta Unolt
22 Deletion 22q13 Syndrome: Phelan–McDermid Syndrome 317Katy Phelan, R. Curtis Rogers, and Luigi Boccuto
23 Denys–Drash Syndrome, Frasier Syndrome, and WAGR Syndrome (WT1-related Disorders) 335Joyce T. Turner and Jeffrey S. Dome
24 Down Syndrome 355Aditi Korlimarla, Sarah J. Hart, Gail A. Spiridigliozzi, and Priya S. Kishnani
25 Ehlers–Danlos Syndromes 389Brad T. Tinkle
26 Fetal Alcohol Spectrum Disorders 405H. Eugene Hoyme and Prachi E. Shah
27 Fetal Anticonvulsant Syndrome 425Elizabeth A. Conover, Omar Abdul-Rahman, and H. Eugene Hoyme
28 Fragile X Syndrome and Premutation-Associated Disorders 443Randi J. Hagerman
29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome 459Peter A. Farndon and D. Gareth Evans
30 Hereditary Hemorrhagic Telangiectasia 475Jonathan N. Berg and Anette D. Kjeldsen
31 Holoprosencephaly 487Paul Kruszka, Andrea L. Gropman, and Maximilian Muenke
32 Incontinentia Pigmenti 505Dian Donnai and Elizabeth A. Jones
33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15) 515Agatino Battaglia
34 Kabuki Syndrome 529Sarah Dugan
35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosomal Conditions 539Carole Samango-Sprouse, John M. Graham Jr, Debra R. Counts, and Jeannie Visootsak
36 Loeys–Dietz Syndrome 563Aline Verstraeten, Harry C. Dietz, and Bart L. Loeys
37 Marfan Syndrome 577Uta Francke
38 Mowat–Wilson Syndrome 597David Mowat and Meredith Wilson
39 Myotonic Dystrophy Type 1 611Isis B.T. Joosten, Kees Okkersen, Baziel G.M. van Engelen, and Catharina G. Faber
40 Neurofibromatosis Type 1 629David Viskochil
41 Noonan Syndrome 651Judith E. Allanson and Amy E. Roberts
42 Oculo-Auriculo-Vertebral Spectrum 671Koenraad Devriendt, Luc De Smet, and Ingele Casteels
43 Osteogenesis Imperfecta 683An N. Dang Do and Joan C. Marini
44 Pallister–Hall Syndrome and Greig Cephalopolysyndactyly Syndrome 707Leslie G. Biesecker
45 Pallister–Killian Syndrome 717Emanuela Salzano, Sarah E. Raible, and Ian D. Krantz
46 Prader–Willi Syndrome 735Shawn E. McCandless and Suzanne B. Cassidy
47 Proteus Syndrome 763Leslie G. Biesecker
48 PTEN Hamartoma Tumor Syndrome 775Joanne Ngeow and Charis Eng
49 Rett Syndrome 791Eric E. Smeets
50 Robin Sequence 807Howard M. Saal
51 Rubinstein–Taybi Syndrome 823Leonie A. Menke and Raoul C. M. Hennekam
52 Silver–Russell Syndrome 837Emma L. Wakeling
53 Smith–Lemli–Opitz Syndrome 851Alicia Latham and Christopher Cunniff
54 Smith–Magenis Syndrome 863Ann C.M. Smith and Andrea L. Gropman
55 Sotos Syndrome 895Trevor R.P. Cole and Alison C. Foster
56 Stickler Syndrome 915Mary B. Sheppard and Clair A. Francomano
57 Treacher Collins Syndrome and Related Disorders 927Marilyn C. Jones
58 Trisomy 18 and Trisomy 13 Syndromes 937John C. Carey
59 Tuberous Sclerosis Complex 957Laura S. Farach, Kit Sing Au, and Hope Northrup
60 Turner Syndrome 977Angela E. Lin and Melissa L. Crenshaw
61 VATER/VACTERL Association 995Benjamin D. Solomon and Bryan D. Hall
62 Von Hippel–Lindau Syndrome 1005Samantha E. Greenberg, Luke D. Maese, and Benjamin L. Maughan
63 Williams Syndrome 1021Colleen A. Morris and Carolyn B. Mervis
Index 1039