Genetics for Pediatricians The Molecular Genetic Basis of Pediatric Disorders PDF

1. Progressive Ataxias and Neurologic Disorders 1
Ataxia–Telangiectasia 2
Duchenne Muscular Dystrophy 4
Facioscapulohumeral Muscular Dystrophy 7
Friedreich Ataxia 8
Hereditary Motor and Sensory Neuropathy 10
Limb-girdle Muscular Dystrophy 18
Myotonic Dystrophy 23
Spinal Muscular Atrophy 27
2. Cerebral Malformations and Mental Retardation Syndromes 29
Angelman Syndrome 30
Fragile X Syndrome 34
Holoprosencephaly 36
Hunter Syndrome 40
Huntington Disease 41
Lesch–Nyhan Syndrome 43
Lissencephaly 45
Lowe Syndrome 52
Neuronal Ceroid Lipofuscinosis 53
Pelizaeus–Merzbacher Syndrome 57
Prader–Willi Syndrome 59
Rett Syndrome 61
X-linked Adrenoleukodystrophy 62
X-linked α-Thalassemia and Mental Retardation Syndrome 64
X-linked Hydrocephalus 66
3. Disorders of Vision 69
Aniridia 70
Bardet–Biedl Syndrome 72
Juvenile Retinoschisis 74
Leber Congenital Amaurosis 75
Norrie Disease 79
Rieger Syndrome 80
4. Hearing Disorders 83
Nonsyndromal Hearing Loss 84
Hearing Loss due to Connexin 26 Gene Defect 85
Pendred Syndrome 86
Usher Syndrome 87
Waardenburg Syndrome 90
5. Neurocutaneous Disorders and Childhood Cancer 93
Multiple Endocrine Neoplasia Type 2 94
Neurofibromatosis Type 1 96
Retinoblastoma 98
Tuberous Sclerosis 101
von Hippel–Lindau Disease 103
6. Connective Tissue and Skeletal Disorders 107
Achondroplasia 108
Ehlers–Danlos Syndrome 110
Hereditary Multiple Exostoses 115
Marfan Syndrome 117
Osteogenesis Imperfecta 119
Pseudoachondroplasia 124
Stickler Syndrome 125
7. Cardio-respiratory Disorders 129
Barth Syndrome 130
Cystic Fibrosis 131
DiGeorge/Shprintzen Syndrome 133
Holt–Oram Syndrome 135
Laterality Defects 137
Noonan Syndrome 138
Primary Ciliary Dyskinesia 139
Williams Syndrome 141
Genetics for Pediatricians
8. Craniofacial Disorders 143
Apert Syndrome 144
Crouzon Syndrome 146
Greig Syndrome 148
Pfeiffer Syndrome 149
Rubinstein–Taybi Syndrome 151
Saethre–Chotzen Syndrome 152
Sotos Syndrome 153
Treacher Collins Syndrome 154
Van der Woude Syndrome 155
9. Endocrine Disorders 157
Androgen Insensitivity Syndrome 158
Congenital Adrenal Hyperplasia 160
Diabetes Insipidus 163
Growth Hormone Deficiency 164
Growth Hormone Receptor Defects 166
Panhypopituitarism 167
Pseudohypoparathyroidism 169
10. Gastrointestinal and Hepatic Diseases 173
Alagille Syndrome 174
α1-Antitrypsin Deficiency 175
Hirschsprung Disease 177
11. Hematologic Disorders 181
Fanconi Anemia 182
Glucose-6-Phosphate Dehydrogenase Deficiency 183
Hemophilia A 185
Hemophilia B 187
Hereditary Elliptocytosis 189
Hereditary Spherocytosis 190
Sickle Cell Anemia 193
α-Thalassemia 194
β-Thalassemia 197
von Willebrand Disease 198
12. Immunologic Disorders 201
Bruton Agammaglobulinemia 202
Chronic Granulomatous Disease 203
Severe Combined Immunodeficiency 205
Wiskott–Aldrich Syndrome 207
13. Metabolic Disorders 209
Medium Chain Acyl-CoA Dehydrogenase Deficiency 210
Menkes Disease 211
Ornithine Transcarbamylase Deficiency 212
Phenylketonuria 214
Wilson Disease 215
14. Renal Disorders 217
Alport Syndrome 218
Beckwith–Wiedemann Syndrome 220
Cystinosis 224
Orofaciodigital Syndrome Type I 225
Polycystic Kidney Disease 226
15. Abbreviations 229
16. Glossary 235
17. Index 285
Genetics for Pediatricians The Molecular Genetic Basis of Pediatric Disorders PDF Ebook

Mohnish Suri is affiliated with the City Hospital in Nottingham, England and Ian D Young is affiliated with the Leicester Royal Infirmary, England.