title: Smith-Lemli-Opitz-syndrome.
abstract: Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase. We describe one such child with Smith-Lemli-Opitz syndrome. This child had clinical features similar to Smith-Lemli-Opitz syndrome like facial dysmorphism and cardiac and renal anomalies with failure to thrive.
authors.affiliation: Department of Pediatrics, B. J. Wadia Hospital for Children, Parel, Mumbai, India.
authors.forename: Rachana
authors.initials: R
authors.lastname: Gedam
authors.forename: Ira
authors.initials: I
authors.lastname: Shah
authors.forename: Uma
authors.initials: U
authors.lastname: Ali
authors.forename: Alpana
authors.initials: A
authors.lastname: Ohri