PHENOTYPIC DIVERSITY IN THE SMITH-LEMLI-OPITZ SYNDROME

The phenotype of four cases of Smith-Lemli-Opitz syndrome (SLO) with p roven defects in cholesterol biosynthesis are compared, and shown to b e markedly disparate even between sibs, and demonstrate the dilemma fo r the clinician. The advent of a biochemical test for SLO has been eno rmously valuable in determining which patients are truly affected by t he condition, but because of the wide phenotypic variation, a diagnosi s on clinical features alone remains problematic.