Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Abstract excerpt

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis. METHODS: We retrospectively reviewed the records of 18...

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• Adrenal Insufficiency
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• Biomarkers
• Cholesterol
• Follow-Up Studies