Smith-Lemli-Opitz Syndrome

Abstract

Two sibs, a male aged 3 years and female aged 7 months, with a variant of Smith-Lemli-Opitz (SLO) syndrome and atypical sterol metabolism are reported from the Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.

Keywords

• smith-lemli-opitz
• plasma cholesterol
• 7-dehydrocholesterol