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: α 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

41 Noonan Syndrome 651
Judith E. Allanson and Amy E. Roberts

42 Oculo-Auriculo-Vertebral Spectrum 671
Koenraad Devriendt, Luc De Smet, and Ingele Casteels

43 Osteogenesis Imperfecta 683
An N. Dang Do and Joan C. Marini

44 Pallister–Hall Syndrome and Greig Cephalopolysyndactyly Syndrome 707
Leslie G. Biesecker

45 Pallister–Killian Syndrome 717
Emanuela Salzano, Sarah E. Raible, and Ian D. Krantz

46 Prader–Willi Syndrome 735
Shawn E. McCandless and Suzanne B. Cassidy

47 Proteus Syndrome 763
Leslie G. Biesecker

48 PTEN Hamartoma Tumor Syndrome 775
Joanne Ngeow and Charis Eng

49 Rett Syndrome 791
Eric E. Smeets

50 Robin Sequence 807
Howard M. Saal

51 Rubinstein–Taybi Syndrome 823
Leonie A. Menke and Raoul C. M. Hennekam

52 Silver–Russell Syndrome 837
Emma L. Wakeling

53 Smith–Lemli–Opitz Syndrome 851
Alicia Latham and Christopher Cunniff

54 Smith–Magenis Syndrome 863
Ann C.M. Smith and Andrea L. Gropman

55 Sotos Syndrome 895
Trevor R.P. Cole and Alison C. Foster

56 Stickler Syndrome 915
Mary B. Sheppard and Clair A. Francomano

57 Treacher Collins Syndrome and Related Disorders 927
Marilyn C. Jones

58 Trisomy 18 and Trisomy 13 Syndromes 937
John C. Carey

59 Tuberous Sclerosis Complex 957
Laura S. Farach, Kit Sing Au, and Hope Northrup

60 Turner Syndrome 977
Angela E. Lin and Melissa L. Crenshaw

61 VATER/VACTERL Association 995
Benjamin D. Solomon and Bryan D. Hall

62 Von Hippel–Lindau Syndrome 1005
Samantha E. Greenberg, Luke D. Maese, and Benjamin L. Maughan

63 Williams Syndrome 1021
Colleen A. Morris and Carolyn B. Mervis

Index 1039