Phenotypic diversity in the Smith-Lemli-Opitz syndrome

Clin Dysmorphol. 1997 Jan;6(1):69-73.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Phenotype*
  • Smith-Lemli-Opitz Syndrome / genetics*