Smith-Lemli-Opitz syndrome: Clinical and biochemical features in a Tunisian infant

Abstract

Background: Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by development delay, intrauterine growth retardation and a wide spectrum of congenital malformations. It is caused by mutations in the 7-dehydrocholesterol reductase (7DHCR) gene. Case presentation: We report the first case of a Tunisian patient with SLOS. The diagnosis was suspected by the dysmorphic features, the bilateral syndactyly of 2nd and 3rd toes and the abnormal genitalia. It was confirmed by a high serum level of 7-dehydrocholesterol and low level of cholesterol. Conclusion: SLOS is a severe congenital disorder which has a major phenotypic heterogeneity.