↓ Skip to main content
What is this page? Embed badge

Atlas of Genetic Diagnosis and Counseling

Overview of attention for book
Atlas of Genetic Diagnosis and Counseling
Springer New York

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
Attention for Chapter 218: Smith–Lemli–Opitz Syndrome
Altmetric Badge
Summary
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Chapter title
Smith–Lemli–Opitz Syndrome
Chapter number 218
Book title
Atlas of Genetic Diagnosis and Counseling
Published by
Springer New York, June 2017
DOI 10.1007/978-1-4939-2401-1_218
Book ISBNs
978-1-4939-2400-4, 978-1-4939-2401-1
Authors

Harold Chen

View on publisher site
Timeline

Login to access the full chart related to this output.

If you don’t have an account, click here to discover Explorer

This page is provided by Altmetric.