Abstract
Smith-Lemli-Opitz syndrome (SLOS) is caused by an inborn error of cholesterol metabolism that results in deficiency of cholesterol and accumulation of the cholesterol precursor, 7-dehydrocholesterol (DHC) and its isomer, 8-DHC. Affected patients present with dysmorphic facial features, congenital anomalies, and growth and mental retardation. Postnatal treatment with cholesterol supplementation has been shown to improve plasma sterol levels in most patients. The most significant clinical improvement is seen in patients who began treatment at the youngest ages.
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