Prenatal Diagnosis of Smith–Lemli–Opitz Syndrome

Abstract

Smith–Lemli–Opitz (SLO) syndrome is an autosomal recessive multiple congenital malformation syndrome due to mutations in the 7-DHCR gene. The presented boy was diagnosed prenatally with multiple congenital malformations and confirmed as SLO by autopsy and molecular diagnosis. Interestingly in this boy prenatal MRI revealed a dilated duodenum, pointing towards intestinal dysmotility which is common in SLO.