Case Report
Deepak Sharma, Aakash Pandi
Abstract
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism for cholesterol synthesis. The enzyme defect involved in the syndrome is mutation of 7-Dehydrocholesterol reductase (DHCR7) which leads to increase in plasma concentration of 7- and 8-dehydrocholesterol (DHC) levels. The affected patients have different presentation and usually involve all systems of the body. We report a newborn who was diagnosed as case of SLOS on the basis of clinical and biochemical investigation.