Smith Lemli Opitz syndrome: a case report

Abstract

INTRODUCTION; Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by deficiency of the enzyme 7-dehydrocholesterol-delta 7-reductase. This enzyme converts 7-dehydrocholesterol (7DHC) to cholesterol resulting in generalized cholesterol deficiency.1,2 Cases of SLOS can vary widely in their clinical presentation. The most commonly observed features include characteristic dysmorphic features, syndactly, growth retardation, microcephaly, Intellectual disability and ambiguous genitalia.3,4