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Review
. 2003;23(1):22-7.
doi: 10.1111/j.1754-4505.2003.tb00285.x.

Smith-Lemli-Opitz syndrome: a review, case report and dental implications

Kathleen B Muzzin  1 , Lisa F Harper
Affiliations
Review

Smith-Lemli-Opitz syndrome: a review, case report and dental implications

Kathleen B Muzzin et al. Spec Care Dentist. 2003.

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive developmental disorder characterized by multiple congenital malformations, dysmorphic craniofacial features, and mental impairment. SLOS is caused by a deficiency of the enzyme 7-dehydrocholesterol delta7 reductase which converts 7-dehyrocholesterol to cholesterol. This error results in elevated serum levels of 7-dehydrocholesterol and decreased levels of serum cholesterol. This article describes the clinical features and medical treatment of SLOS. A case report is included, with recommended guidelines for providing safe and comprehensive dental care for individuals with SLOS.

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