Journal of Neonatal Biology

Abstract

Suspected Smith-Lemli-Opitz-Syndrome: A Very Rare Syndrome

Deepak Sharma, Aakash Pandita, Srinivas Murki, Tejo Pratap and Vasikarla Madhavi

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.