| CASE REPORT |
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| Year : 2012 | Volume
: 18
| Issue : 2 | Page : 235-237 |
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Smith-Lemli-Opitz-syndrome
Rachana Gedam, Ira Shah, Uma Ali, Alpana Ohri
Department of Pediatrics, B. J. Wadia Hospital for Children, Parel, Mumbai, India
Correspondence Address:
Ira Shah
1/B Saguna, 271/B St Francis Road, Vile Parle (W), Mumbai - 400056
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.100779
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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. |
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