Atlas of Genetic Diagnosis and Counseling

Table of Contents

1. Altmetric Badge
   Book Overview
2. Altmetric Badge
   Chapter 1 Acardia
3. Altmetric Badge
   Chapter 2 Achondrogenesis
4. Altmetric Badge
   Chapter 3 Achondroplasia
5. Altmetric Badge
   Chapter 4 Adams-Oliver Syndrome
6. Altmetric Badge
   Chapter 5 Agnathia
7. Altmetric Badge
   Chapter 6 Aicardi Syndrome
8. Altmetric Badge
   Chapter 7 Alagille Syndrome
9. Altmetric Badge
   Chapter 8 Albinism
10. Altmetric Badge
    Chapter 9 Alpha-Thalassemia X-Linked Mental Retardation Syndrome
11. Altmetric Badge
    Chapter 10 Ambiguous Genitalia
12. Altmetric Badge
    Chapter 11 Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex
13. Altmetric Badge
    Chapter 12 Androgen Insensitivity Syndrome
14. Altmetric Badge
    Chapter 13 Angelman Syndrome
15. Altmetric Badge
    Chapter 14 Apert Syndrome
16. Altmetric Badge
    Chapter 15 Aplasia Cutis Congenita
17. Altmetric Badge
    Chapter 16 Arthrogryposis Multiplex Congenita
18. Altmetric Badge
    Chapter 17 Asphyxiating Thoracic Dystrophy
19. Altmetric Badge
    Chapter 18 Ataxia-Telangiectasia
20. Altmetric Badge
    Chapter 19 Atelosteogenesis
21. Altmetric Badge
    Chapter 20 Autism
22. Altmetric Badge
    Chapter 21 Bannayan-Riley-Ruvalcaba Syndrome
23. Altmetric Badge
    Chapter 22 Beckwith-Wiedemann Syndrome
24. Altmetric Badge
    Chapter 23 Behçet Disease
25. Altmetric Badge
    Chapter 24 Biotinidase Deficiency
26. Altmetric Badge
    Chapter 25 Bladder Exstrophy
27. Altmetric Badge
    Chapter 26 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
28. Altmetric Badge
    Chapter 27 Body Stalk Anomaly
29. Altmetric Badge
    Chapter 28 Brachydactyly
30. Altmetric Badge
    Chapter 29 Branchial Cleft Anomalies
31. Altmetric Badge
    Chapter 31 Campomelic Dysplasia
32. Altmetric Badge
    Chapter 32 Carpenter Syndrome
33. Altmetric Badge
    Chapter 33 Cat Eye Syndrome
34. Altmetric Badge
    Chapter 34 Celiac Disease
35. Altmetric Badge
    Chapter 36 Cerebrocostomandibular Syndrome
36. Altmetric Badge
    Chapter 37 Charcot-Marie-Tooth Disease
37. Altmetric Badge
    Chapter 39 Cherubism
38. Altmetric Badge
    Chapter 40 Chiari Malformation
39. Altmetric Badge
    Chapter 41 Chondrodysplasia Punctata
40. Altmetric Badge
    Chapter 43 Cleft Lip and/or Cleft Palate
41. Altmetric Badge
    Chapter 44 Cleidocranial Dysplasia
42. Altmetric Badge
    Chapter 45 Cloacal Exstrophy
43. Altmetric Badge
    Chapter 46 Clubfoot
44. Altmetric Badge
    Chapter 47 Collodion Baby
45. Altmetric Badge
    Chapter 49 Congenital Cutis Laxa
46. Altmetric Badge
    Chapter 52 Congenital Hemihyperplasia
47. Altmetric Badge
    Chapter 53 Congenital Hydrocephalus
48. Altmetric Badge
    Chapter 54 Congenital Hypothyroidism
49. Altmetric Badge
    Chapter 55 Congenital Muscular Dystrophy
50. Altmetric Badge
    Chapter 56 Congenital Toxoplasmosis
51. Altmetric Badge
    Chapter 57 Conjoined Twins
52. Altmetric Badge
    Chapter 58 Corpus Callosum Agenesis/Dysgenesis
53. Altmetric Badge
    Chapter 59 Craniometaphyseal Dysplasia
54. Altmetric Badge
    Chapter 60 Cri-Du-Chat Syndrome
55. Altmetric Badge
    Chapter 61 Crouzon Syndrome
56. Altmetric Badge
    Chapter 62 Cutis Marmorata Telangiectatica Congenita
57. Altmetric Badge
    Chapter 63 Cystic Fibrosis
58. Altmetric Badge
    Chapter 64 Dandy–Walker Malformation
59. Altmetric Badge
    Chapter 65 De Lange Syndrome
60. Altmetric Badge
    Chapter 66 Del(18p) Syndrome
61. Altmetric Badge
    Chapter 67 Del(22q11.2) Syndrome
62. Altmetric Badge
    Chapter 68 Del(Yq) Syndrome
63. Altmetric Badge
    Chapter 69 Diabetic Embryopathy
64. Altmetric Badge
    Chapter 70 Down Syndrome
65. Altmetric Badge
    Chapter 71 Duncan Syndrome
66. Altmetric Badge
    Chapter 72 Dyschondrosteosis
67. Altmetric Badge
    Chapter 73 Dysmelia
68. Altmetric Badge
    Chapter 74 Dysplasia Epiphysealis Hemimelica
69. Altmetric Badge
    Chapter 75 Dystonia
70. Altmetric Badge
    Chapter 76 Dystrophinopathies
71. Altmetric Badge
    Chapter 77 Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome
72. Altmetric Badge
    Chapter 78 Ehlers-Danlos Syndrome
73. Altmetric Badge
    Chapter 79 Ellis-van Creveld Syndrome
74. Altmetric Badge
    Chapter 80 Enchondromatosis
75. Altmetric Badge
    Chapter 81 Epidermolysis Bullosa
76. Altmetric Badge
    Chapter 82 Epidermolytic Palmoplantar Keratoderma
77. Altmetric Badge
    Chapter 83 Faciogenital (Faciodigitogenital) Dysplasia
78. Altmetric Badge
    Chapter 84 Facioscapulohumeral Muscular Dystrophy
79. Altmetric Badge
    Chapter 85 Familial Adenomatous Polyposis
80. Altmetric Badge
    Chapter 86 Familial Hyperlysinemia
81. Altmetric Badge
    Chapter 87 Familial Mediterranean Fever
82. Altmetric Badge
    Chapter 88 Fanconi Anemia
83. Altmetric Badge
    Chapter 89 Femoral Hypoplasia: Unusual Facies Syndrome
84. Altmetric Badge
    Chapter 90 Fetal Akinesia Deformation Sequence
85. Altmetric Badge
    Chapter 92 Fetal Hydantoin Syndrome
86. Altmetric Badge
    Chapter 93 Fibrodysplasia Ossificans Progressiva
87. Altmetric Badge
    Chapter 94 Finlay-Marks Syndrome
88. Altmetric Badge
    Chapter 95 Floppy Infant
89. Altmetric Badge
    Chapter 96 Fragile X Syndrome
90. Altmetric Badge
    Chapter 97 Fraser Syndrome
91. Altmetric Badge
    Chapter 98 Freeman-Sheldon Syndrome
92. Altmetric Badge
    Chapter 99 Friedreich Ataxia
93. Altmetric Badge
    Chapter 100 Frontonasal Dysplasia
94. Altmetric Badge
    Chapter 101 Galactosemia
95. Altmetric Badge
    Chapter 102 Gastroschisis
96. Altmetric Badge
    Chapter 103 Gaucher Disease
97. Altmetric Badge
    Chapter 104 Generalized Arterial Calcification of Infancy
98. Altmetric Badge
    Chapter 105 Genitopatellar Syndrome
99. Altmetric Badge
    Chapter 106 Giant Congenital Melanocytic Nevi
100. Altmetric Badge
     Chapter 107 Glucose-6-Phosphate Dehydrogenase Deficiency
101. Altmetric Badge
     Chapter 109 Goldenhar Syndrome
102. Altmetric Badge
     Chapter 110 Gorlin Syndrome
103. Altmetric Badge
     Chapter 111 Greig Cephalopolysyndactyly Syndrome
104. Altmetric Badge
     Chapter 112 Hallermann-Streiff Syndrome
105. Altmetric Badge
     Chapter 113 Harlequin Ichthyosis
106. Altmetric Badge
     Chapter 114 Hemophilia A
107. Altmetric Badge
     Chapter 115 Hereditary Hearing Loss
108. Altmetric Badge
     Chapter 117 Hereditary Multiple Exostoses
109. Altmetric Badge
     Chapter 118 Herlyn-Werner-Wunderlich Syndrome
110. Altmetric Badge
     Chapter 119 Holoprosencephaly
111. Altmetric Badge
     Chapter 120 Holt-Oram Syndrome
112. Altmetric Badge
     Chapter 121 Huntington Disease
113. Altmetric Badge
     Chapter 122 Hydrolethalus Syndrome
114. Altmetric Badge
     Chapter 123 Hydrops Fetalis
115. Altmetric Badge
     Chapter 124 Hyper-IgE Syndrome
116. Altmetric Badge
     Chapter 125 Hypochondroplasia
117. Altmetric Badge
     Chapter 126 Hypoglossia-Hypodactylia Syndrome
118. Altmetric Badge
     Chapter 127 Hypohidrotic Ectodermal Dysplasia
119. Altmetric Badge
     Chapter 128 Hypomelanosis of Ito
120. Altmetric Badge
     Chapter 129 Hypophosphatasia
121. Altmetric Badge
     Chapter 131 I(1p), I(1q) Syndrome
122. Altmetric Badge
     Chapter 132 Idic(Yq) Syndrome
123. Altmetric Badge
     Chapter 133 Incontinentia Pigmenti
124. Altmetric Badge
     Chapter 134 Infantile Myofibromatosis
125. Altmetric Badge
     Chapter 136 Jarcho-Levin Syndrome
126. Altmetric Badge
     Chapter 137 Joubert Syndrome
127. Altmetric Badge
     Chapter 138 Kabuki Syndrome
128. Altmetric Badge
     Chapter 139 Kasabach–Merritt Syndrome
129. Altmetric Badge
     Chapter 140 KID Syndrome
130. Altmetric Badge
     Chapter 141 Klinefelter Syndrome
131. Altmetric Badge
     Chapter 142 Klippel-Feil Syndrome
132. Altmetric Badge
     Chapter 143 Klippel-Trenaunay Syndrome
133. Altmetric Badge
     Chapter 144 Kniest Dysplasia
134. Altmetric Badge
     Chapter 145 Larsen Syndrome
135. Altmetric Badge
     Chapter 146 LEOPARD Syndrome
136. Altmetric Badge
     Chapter 147 Lesch-Nyhan Syndrome
137. Altmetric Badge
     Chapter 148 Lethal Multiple Pterygium Syndrome
138. Altmetric Badge
     Chapter 149 Loeys-Dietz Syndrome
139. Altmetric Badge
     Chapter 150 Lowe Syndrome
140. Altmetric Badge
     Chapter 151 Marfan Syndrome
141. Altmetric Badge
     Chapter 152 McCune-Albright Syndrome
142. Altmetric Badge
     Chapter 153 Meckel-Gruber Syndrome
143. Altmetric Badge
     Chapter 154 Megalencephalic Leukoencephalopathy with Subcortical Cysts
144. Altmetric Badge
     Chapter 155 Menkes Disease
145. Altmetric Badge
     Chapter 156 Metachromatic Leukodystrophy
146. Altmetric Badge
     Chapter 157 Miller-Dieker Syndrome
147. Altmetric Badge
     Chapter 158 Mitochondrial Leber Hereditary Optic Neuropathy
148. Altmetric Badge
     Chapter 159 Möbius Syndrome
149. Altmetric Badge
     Chapter 160 Mowat-Wilson Syndrome
150. Altmetric Badge
     Chapter 161 Mucopolysaccharidosis I (MPS I)
151. Altmetric Badge
     Chapter 163 Mucopolysaccharidosis 3
152. Altmetric Badge
     Chapter 166 Mucolipidosis 2
153. Altmetric Badge
     Chapter 167 Mucolipidosis 3
154. Altmetric Badge
     Chapter 169 Multiple Epiphyseal Dysplasia
155. Altmetric Badge
     Chapter 170 Multiple Pterygium Syndrome
156. Altmetric Badge
     Chapter 171 Myotonic Dystrophy Type 1
157. Altmetric Badge
     Chapter 172 Nail-Patella Syndrome
158. Altmetric Badge
     Chapter 174 Nephrogenic Diabetes Insipidus
159. Altmetric Badge
     Chapter 175 Netherton Syndrome
160. Altmetric Badge
     Chapter 176 Neu-Laxova Syndrome
161. Altmetric Badge
     Chapter 177 Neural Tube Defects
162. Altmetric Badge
     Chapter 178 Neurofibromatosis 1
163. Altmetric Badge
     Chapter 179 Neurofibromatosis 2
164. Altmetric Badge
     Chapter 180 Noonan Syndrome
165. Altmetric Badge
     Chapter 181 Oblique Facial Cleft Syndrome
166. Altmetric Badge
     Chapter 182 Oligohydramnios Sequence
167. Altmetric Badge
     Chapter 183 Omphalocele
168. Altmetric Badge
     Chapter 184 Oral-Facial-Digital Syndrome
169. Altmetric Badge
     Chapter 185 Osteogenesis Imperfecta
170. Altmetric Badge
     Chapter 186 Osteopetrosis
171. Altmetric Badge
     Chapter 187 Osteopoikilosis
172. Altmetric Badge
     Chapter 188 Otopalatodigital Spectrum Disorders
173. Altmetric Badge
     Chapter 189 Pachyonychia Congenita
174. Altmetric Badge
     Chapter 190 Pallister–Killian Syndrome
175. Altmetric Badge
     Chapter 192 Pierre Robin Sequence
176. Altmetric Badge
     Chapter 193 Polycystic Kidney Disease: Autosomal Dominant Type
177. Altmetric Badge
     Chapter 194 Polycystic Kidney Disease: Autosomal Recessive Type
178. Altmetric Badge
     Chapter 195 Popliteal Pterygium Syndrome
179. Altmetric Badge
     Chapter 196 Prader-Willi Syndrome
180. Altmetric Badge
     Chapter 197 Progeria
181. Altmetric Badge
     Chapter 198 Prune Belly Syndrome
182. Altmetric Badge
     Chapter 199 Pseudoachondroplasia
183. Altmetric Badge
     Chapter 200 R(18) Syndrome
184. Altmetric Badge
     Chapter 201 Retinoid Embryopathy
185. Altmetric Badge
     Chapter 202 Rett Syndrome
186. Altmetric Badge
     Chapter 203 Rickets
187. Altmetric Badge
     Chapter 204 Rigid Spine Syndrome
188. Altmetric Badge
     Chapter 205 Roberts Syndrome
189. Altmetric Badge
     Chapter 206 Robinow Syndrome
190. Altmetric Badge
     Chapter 207 Rubinstein-Taybi Syndrome
191. Altmetric Badge
     Chapter 208 Saethre-Chotzen Syndrome
192. Altmetric Badge
     Chapter 209 Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis
193. Altmetric Badge
     Chapter 210 Schizencephaly
194. Altmetric Badge
     Chapter 211 Schmid Metaphyseal Chondrodysplasia
195. Altmetric Badge
     Chapter 212 Seckel Syndrome
196. Altmetric Badge
     Chapter 213 Severe Combined Immune Deficiency
197. Altmetric Badge
     Chapter 214 Short-Rib Polydactyly Syndromes
198. Altmetric Badge
     Chapter 215 Sickle Cell Disease
199. Altmetric Badge
     Chapter 216 Silver–Russell Syndrome
200. Altmetric Badge
     Chapter 217 Sirenomelia
201. Altmetric Badge
     Chapter 218 Smith–Lemli–Opitz Syndrome
202. Altmetric Badge
     Chapter 219 Smith-Magenis Syndrome
203. Altmetric Badge
     Chapter 221 Spinal Muscular Atrophy
204. Altmetric Badge
     Chapter 223 Stickler Syndrome
205. Altmetric Badge
     Chapter 224 Sturge-Weber Syndrome
206. Altmetric Badge
     Chapter 225 Tay-Sachs Disease
207. Altmetric Badge
     Chapter 226 Tetrasomy 9p Syndrome
208. Altmetric Badge
     Chapter 227 Thalassemia
209. Altmetric Badge
     Chapter 228 Thanatophoric Dysplasia
210. Altmetric Badge
     Chapter 229 Thrombocytopenia-Absent Radius Syndrome
211. Altmetric Badge
     Chapter 231 Trimethylaminuria
212. Altmetric Badge
     Chapter 232 Triploidy
213. Altmetric Badge
     Chapter 233 Trismus-Pseudocamptodactyly Syndrome
214. Altmetric Badge
     Chapter 235 Trisomy 13 Syndrome
215. Altmetric Badge
     Chapter 236 Trisomy 18 Syndrome
216. Altmetric Badge
     Chapter 237 Tuberous Sclerosis
217. Altmetric Badge
     Chapter 238 Turner Syndrome
218. Altmetric Badge
     Chapter 239 Twin-Twin Transfusion Syndrome
219. Altmetric Badge
     Chapter 240 Ulnar-Mammary Syndrome
220. Altmetric Badge
     Chapter 241 Urofacial Syndrome
221. Altmetric Badge
     Chapter 242 VATER (VACTERL) Association
222. Altmetric Badge
     Chapter 243 Von Hippel-Lindau Disease
223. Altmetric Badge
     Chapter 244 Waardenburg Syndrome
224. Altmetric Badge
     Chapter 245 Weill-Marchesani Syndrome
225. Altmetric Badge
     Chapter 246 Williams Syndrome
226. Altmetric Badge
     Chapter 247 Wolf–Hirschhorn Syndrome
227. Altmetric Badge
     Chapter 248 X-Linked Agammaglobulinemia
228. Altmetric Badge
     Chapter 251 XXX Syndrome
229. Altmetric Badge
     Chapter 252 XXXXX Syndrome
230. Altmetric Badge
     Chapter 253 XXXXY Syndrome
231. Altmetric Badge
     Chapter 254 XY Female
232. Altmetric Badge
     Chapter 255 XYY Syndrome
233. Altmetric Badge
     Chapter 256 Cutaneous Vasculitis
234. Altmetric Badge
     Chapter 257 Patellar Instability
235. Altmetric Badge
     Chapter 258 Feingold Syndrome
236. Altmetric Badge
     Chapter 259 Fibular Hemimelia
237. Altmetric Badge
     Chapter 260 Hemangiomas of Infancy
238. Altmetric Badge
     Chapter 261 Hereditary Sensory and Autonomic Neuropathies
239. Altmetric Badge
     Chapter 263 Lymphangiomas and Lymphangiomatosis
240. Altmetric Badge
     Chapter 264 Opitz Trigonocephaly Syndrome
241. Altmetric Badge
     Chapter 265 Osteogenesis Imperfecta/Ehlers-Danlos Syndrome Overlap Syndrome
242. Altmetric Badge
     Chapter 266 Nager Acrofacial Dysostosis
243. Altmetric Badge
     Chapter 267 Nasal Obstruction in Neonates and Children
244. Altmetric Badge
     Chapter 268 Primary Microcephaly
245. Altmetric Badge
     Chapter 269 Congenital Radioulnar Synostosis
246. Altmetric Badge
     Chapter 270 Symphalangism
247. Altmetric Badge
     Chapter 272 Hereditary Spastic Paraplegia
248. Altmetric Badge
     Chapter 273 Gilbert Syndrome
249. Altmetric Badge
     Chapter 274 Isolated Growth Hormone Deficiency in Children
250. Altmetric Badge
     Chapter 275 Hypertrophic Cardiomyopathy
251. Altmetric Badge
     Chapter 276 Peutz-Jeghers Syndrome
252. Altmetric Badge
     Chapter 277 Niemann-Pick Disease
253. Altmetric Badge
     Chapter 278 Macrodactyly
254. Altmetric Badge
     Chapter 279 Tyrosinemias
255. Altmetric Badge
     Chapter 281 Tibial Hemimelia
256. Altmetric Badge
     Chapter 282 Congenital Infiltrating Lipomatosis of the Face
257. Altmetric Badge
     Chapter 284 Schwartz-Jampel Syndrome