title: Phenotypic diversity in the Smith-Lemli-Opitz syndrome.
abstract: The phenotype of four cases of Smith-Lemli-Opitz syndrome (SLO) with proven defects in cholesterol biosynthesis are compared, and shown to be markedly disparate even between sibs, and demonstrate the dilemma for the clinician. The advent of a biochemical test for SLO has been enormously valuable in determining which patients are truly affected by the condition, but because of the wide phenotypic variation, a diagnosis on clinical features alone remains problematic.
authors.affiliation: South East Thames Regional Genetics Centre, London, UK. m.seller@umds.ac.uk
authors.forename: M J
authors.initials: MJ
authors.lastname: Seller
authors.forename: F A
authors.initials: FA
authors.lastname: Flinter
authors.forename: Z
authors.initials: Z
authors.lastname: Docherty
authors.forename: N
authors.initials: N
authors.lastname: Fagg
authors.forename: M
authors.initials: M
authors.lastname: Newbould
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*