- Incidence
- Diagnostic criteria
- Etiology, pathogenesis and genetics
- Diagnostic testing
- Differential diagnosis
Table of Contents
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: 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
