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smith-lemli-opitz_syndrome [2025/07/08 23:10] – [References] Scott Larsonsmith-lemli-opitz_syndrome [2025/07/11 18:05] (current) – Scott Larson
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 ====== Smith-Lemli-Optiz Syndrome ====== ====== Smith-Lemli-Optiz Syndrome ======
 ==== Characteristics ==== ==== Characteristics ====
-  * distinctive facial features+  * Distinctive facial features
     * microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia      * microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia 
-<WRAP round box 60%>{{::smith_lemli_optiz.jpg?|}} \\ See Reference 1 below +<WRAP round box 60%>{{::smith_lemli_optiz.jpg?|}} \\ See Reference [1] below 
 </WRAP> </WRAP>
-  * microcephaly  +  * Microcephaly  
-  * intellectual disability or learning problems +  * Intellectual disability or learning problems 
-  * behavioral problems+  * Behavioral problems
     * autism     * autism
   * Feeding difficulties and growth delay   * Feeding difficulties and growth delay
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   * Inherited in an autosomal recessive pattern.   * Inherited in an autosomal recessive pattern.
 ====References==== ====References====
-  - [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343216/#!po=0.505051 | Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome]]+  - [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343216/#!po=0.505051 | Bainconi S E. et al. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs 2015;3(3):267-280]]
   - [[http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome|Smith-Lemli-Opitz syndrome in Medline Plus]]   - [[http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome|Smith-Lemli-Opitz syndrome in Medline Plus]]
-  - [[https://pubmed.ncbi.nlm.nih.gov/844667/ | Fierro M. et. al. Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. Dev Med Child Neurol. 1977;19(1):57-62+  - [[https://pubmed.ncbi.nlm.nih.gov/844667/ | Fierro M. et. al. Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. Dev Med Child Neurol. 1977;19(1):57-62]]
   - [[https://www.ncbi.nlm.nih.gov/books/NBK1143/ |Gene Reviews]]   - [[https://www.ncbi.nlm.nih.gov/books/NBK1143/ |Gene Reviews]]
  
 {{tag>syndrome}} {{tag>syndrome}}