Cassidy and Allanson's 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.

John Carey, University of Utah, Department of Pediatrics.

Suzanne Cassidy, Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco.

Agatino Battaglia, Director of the Unit of Clinical Dysmorphology, Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, University of Pisa.

David Viskochil, Medical Director, University of Utah Graduate Program in Genetic Counseling.

FOREWORD TO THE FOURTH EDITION

FOREWORD TO THE THIRD EDITION

FOREWORD TO THE SECOND EDITION

FOREWORD TO THE FIRST EDITION

PREFACE

CONTRIBUTORS

INTRODUCTION

1 Aarskog Syndrome

Roger E. Stevenson

2 Achondroplasia

Richard M. Pauli and Lorenzo Botto

3 Alagille Syndrome

Henry Lin and Ian D. Krantz

4 Albinism: Ocular and Oculocutaneous Albinism and
Hermansky-Pudlak Syndrome

C. Gail Summers and David R. Adams

5 Angelman Syndrome

        Charles A. Williams and Jennifer M. Mueller-Mathews

6 Arthrogryposis

Judith G. Hall

7 ATR-X: α-Thalassemia Mental Retardation-X-Linked

Richard J. Gibbons

8 Bardet-Biedl Syndrome

Anne M. Slavotinek

9 Beckwith-Wiedemann Syndrome and Hemihyperplasia

Rosanna Weksberg and Cheryl Shuman

10 Cardio-Facio-Cutaneous Syndrome

Maria Inês Kavamura and Giovanni Neri

11 CHARGE Syndrome

Donna M. Martin, Christine A. Oley and Conny M. A. van Ravenswaaij-Arts

12 Coffin-Lowry Syndrome

R. Curtis Rogers

13 Coffin-Siris Syndrome

Tomoki Kosho and Noriko Miyake

14 Cohen Syndrome

Kate E. Chandler

15 Cornelia de Lange Syndrome

Antonie D. Kline and Matthew Deardorff

16 Costello Syndrome

Bronwyn Kerr, Karen W. Gripp and Emma M.M. Burkitt-Wright

17 Craniosynostosis Syndromes

Elizabeth J. Bhoj and Elaine H. Zackai

18 Deletion 1p36 Syndrome

Agatino Battaglia

19 Deletion 4p: Wolf-Hirschhorn Syndrome

Agatino Battaglia

20 Deletion 5p Syndrome

Antonie D. Kline, Joanne M. Nguyen, and Dennis J. Campbell

21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome)

Donna M. McDonald-McGinn, Stephanie Jeong, Michael J. McGinn II, Elaine H. Zackai, and Marta Unolt

22 Deletion 22q13 Syndrome: Phelan-McDermid Syndrome

Katy Phelan, R. Curtis Rogers, and Luigi Boccuto

23 Denys-Drash, Frasier, and WAGR Syndromes (WT1-related Disorders)

Joyce T. Turner and Jeffrey S. Dome

24 Down Syndrome

Aditi Korlimarla, Sarah J. Hart, Gail Spiridigliozzi, and Priya S. Kishnani

25 Ehlers-Danlos Syndromes

Brad T. Tinkle

26 Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder

H. Eugene Hoyme and Prachi E. Shah

27 Fetal Anticonvulsant Syndrome

Elizabeth A. Conover, Omar A. Rahman, and H. Eugene Hoyme

28 Fragile X Syndrome and Premutation-Associated Disorders

Randi J. Hagerman

29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome

Peter A. Farndon and D. Gareth Evans

30 Hereditary Hemorrhagic Telangiectasia

Jonathan N. Berg and Anette D. Kjeldsen

31 Holoprosencephaly

Andrea L. Gropman and Maximilian Muenke

32 Incontinentia Pigmenti

Dian Donnai and Elizabeth A. Jones

33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15)

Agatino Battaglia

34 Kabuki Syndrome

Sarah Dugan

35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosome Conditions

Carole Samango-Sprouse, John M. Graham Jr, Debra R. Counts, and Jeannie Visootsak

36 Loeys-Dietz Syndrome

Aline Verstraeten, Harry C. Dietz, and Bart L. Loeys

37 Marfan Syndrome

Uta Francke

38 Mowat-Wilson Syndrome

David Mowat and Meredith Wilson

39 Myotonic Dystrophy Type 1

Isis B.T. Joosten, Kees Okkersen, Baziel G.M. van Engelen, and Catharina G. Faber

40 Neurofibromatosis Type 1

David Viskochil

41 Noonan Syndrome

Judith E. Allanson and Amy E. Roberts

42 Oculo-Auriculo-Vertebral Spectrum

Koenraad Devriendt, Luc de Smet, and Ingele Casteels

43 Osteogenesis Imperfecta

An N. Dang Do and Joan C. Marini

44 Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome

Leslie G. Biesecker

45 Pallister-Killian Syndrome

Emanuela Salzano, Sarah E. Raible, and Ian D. Krantz

46 Prader-Willi Syndrome

Shawn E. McCandless and Suzanne B. Cassidy

47 Proteus Syndrome

Leslie G. Biesecker

48 PTEN Hamartoma Tumor Syndrome

Joanne Ngeow and Charis Eng

49 Rett Syndrome

Eric E. Smeets

50 Robin Sequence

Howard M. Saal

51 Rubinstein-Taybi Syndrome

Leonie A. D. Menke and Raoul C. M. Hennekam

52 Silver-Russell Syndrome

 Emma L. Wakeling

53 Smith-Lemli-Opitz Syndrome

Alicia Latham Schwark and Christopher Cunniff

54 Smith-Magenis Syndrome

Ann C.M. Smith and Andrea Gropman

55 Sotos Syndrome

Trevor R.P. Cole and Alison C. Foster

56 Stickler Syndrome

Mary B. Sheppard and Clair A. Francomano

57 Treacher Collins Syndrome and Related Disorders

Marilyn C. Jones

58 Trisomy 18 and Trisomy 13 Syndromes

John C. Carey

59 Tuberous Sclerosis Complex

Laura S. Farach, Kit Sing Au, and Hope Northrup

60 Turner Syndrome

Angela E. Lin and Melissa L. Crenshaw

61 Vater/Vacterl Association

Benjamin Solomon and Bryan D. Hall

62 von Hippel-Lindau Syndrome

Samantha Greenberg, Luke Maese, and Benjamin Maughan

63 Williams Syndrome

Colleen A. Morris and Carolyn B. Mervis

INDEX

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