Eur J Hum Genet. 2008 May;16(5):535-41. Epub 2008 Feb 20.

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

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Section on Molecular Dysmorphology, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA. fdporter@mail.nih.gov

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the clinical aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS.

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