Smith-Lemli-Opitz-syndrome.
Loading...
Date
2012-05
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
Atrial septal defect, cholesterol, hydronephrosis, polydactyly, smith lemli opitz syndrome
Citation
Gedam Rachana, Shah Ira, Ali Uma, Ohri Alpana. Smith-Lemli-Opitz-syndrome. Indian Journal of Human Genetics. 2012 May; 18(2): 235-237.