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Management of genetic syndromes / edited by Suzanne B. Cassidy, Judith E. Allanson. — 3rd ed. — Oxford : Wiley-Blackwell, 2010. – (63.8531/M266/3rd ed.) |
Contents
CONTENTS
FOREWORD TO THE THIRD EDITION
FOREWORD TO THE SECOND EDITION
FOREWORD TO THE FIRST EDITION
PREFACE
CONTRIBUTORS
1 Introduction
2 Aarskog Syndrome
3 Aehondroplasia
4 Alagille Syndrome
5 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome
6 Angelman Syndrome
7 Arthrogryposis
8 ATR-X: a-Thalassemia Mental Retardation-X-Linked
9 Bardet-Biedl Syndrome
10 Beckwith-Wiedemann Syndrome and Hemihyperplasia
11 Cardio-Facio-Cutaneous Syndrome
12 CHARGE Syndrome
13 Coffin-Lowry Syndrome
14 Cohen Syndrome
15 Cornelia de Lange Syndrome
16 Costello Syndrome
17 Craniosynostosis Syndromes
18 Deletion lp36 Syndrome
19 Deletion 4p:Wolf-Hirsehhorn Syndrome
20 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome)
21 Deletion 22q13 Syndrome: Phelan-MeDermid Syndrome
22 Denys-Drash and Frasier Syndromes
23 Down Syndrome
24 Ehlers-Danlos Syndromes
25 Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder
26 Fetal Antieonvulsant Syndrome
27 Fragile X Syndrome and Premutation-Assoeiated Disorders
28 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome
29 Hereditary Hemorrhagic Telangiectasia
30 Hoioproseneephaly
31 lncontinentia Pigmenti
32 Kabuki Syndrome
33 Klinefelter Syndrome
34 Marfan Syndrome
35 Mowat-Wilson Syndrome
36 Myotonic Dystrophy Type 1
37 Neurofibromatosis Type 1
38 Noonan Syndrome
39 Oculo-Auriculo-Vertebral Spectrum
40 Osteogenesis Imperfecta
41 Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome
42 Prader-Willi Syndrome
43 Proteus Syndrome
44 PTEN Hamartoma Tumor Syndrome
45 Rett Syndrome
46 Robin Sequence
47 Rubinstein-Taybi Syndrome
48 Russell-Silver Syndrome
49 Smith-Lemli-Opitz Syndrome
50 Smith-Magenis Syndrome
51 Sotos Syndrome
52 Stickler Syndrome
53 Treacher Collins Syndrome and Related Disorders
54 Trisomy 18 and Trisomy 13 Syndromes
55 Tuberous Selerosis Complex
56 Turner Syndrome
57 Vater/Vacterl Association
58 yon Hippel-Lindau Syndrome
59 WAGR Syndrome
60 Williams Syndrome
INDEX
