Phenotypic diversity in the Smith-Lemli-Opitz syndrome.
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.
Seller
M J
MJ
South East Thames Regional Genetics Centre, London, UK. m.seller@umds.ac.uk
Flinter
F A
FA
Docherty
Z
Z
Fagg
N
N
Newbould
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*