title: Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
abstract: 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.
authors.affiliation: Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. jezela@gmail.com <jezela@gmail.com>
authors.forename: A
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: E
authors.initials: E
authors.lastname: Ciara
authors.forename: E M
authors.initials: EM
authors.lastname: Malunowicz
authors.forename: L
authors.initials: L
authors.lastname: Korniszewski
authors.forename: D
authors.initials: D
authors.lastname: Piekutowska-Abramczuk
authors.forename: E
authors.initials: E
authors.lastname: Popowska
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000201:enzymology / Q000235:genetics*
chemical_list: D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase