Prenatal diagnosis of Smith-Lemli-Opitz syndrome – case report

Abstract

Abstract Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history.