Smith-Lemli-Opitz-syndrome.
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.[1]References
- Smith-Lemli-Opitz-syndrome. Gedam, R., Shah, I., Ali, U., Ohri, A. Indian. J. Hum. Genet (2012) [Pubmed]
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