Document Detail

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
MedLine Citation:
PMID:  18249054     Owner:  NLM     Status:  MEDLINE    
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol reductase, resulting in an increased concentrations of 7-dehydrocholesterol and 8-dehydrocholesterol in body fluids and tissues. Phenotypically it is characterized by wide range of abnormalities, from mild to lethal forms what causes difficulties in its clinical diagnostics. To further delineate the physical spectrum of the mild form of Smith-Lemli-Opitz syndrome, especially with regard to genotype-phenotype correlation, we describe 5 Polish patients with mild phenotype (one with novel mutation in DHCR7 gene and four published before) and analyze 18 other cases from the literature. As the conclusion we give recommendation for tests toward SLOS in cases with "idiopathic" intellectual impairment and/or behavioral anomalies, as well as in biochemically doubtful but clinically fitting cases with overall gestalt and history of this syndrome.
A Jezela-Stanek; E Ciara; E M Malunowicz; L Korniszewski; D Piekutowska-Abramczuk; E Popowska; M Krajewska-Walasek
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-12-08
Journal Detail:
Title:  European journal of medical genetics     Volume:  51     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2008 Mar-Apr
Date Detail:
Created Date:  2008-03-17     Completed Date:  2008-06-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  124-40     Citation Subset:  IM    
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. <>
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MeSH Terms
Child, Preschool
Cholesterol / blood
Infant, Newborn
Mutation / genetics*
Oxidoreductases Acting on CH-CH Group Donors / genetics*
Smith-Lemli-Opitz Syndrome / blood,  enzymology,  genetics*
Reg. No./Substance:
57-88-5/Cholesterol; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC reductase

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