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Smith‐Lemli‐Opitz syndrome: a review, case report and dental implications
Author(s) -
Muzzin Kathleen B.,
Harper Lisa F.
Publication year - 2003
Publication title -
special care in dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.328
H-Index - 41
eISSN - 1754-4505
pISSN - 0275-1879
DOI - 10.1111/j.1754-4505.2003.tb00285.x
Subject(s) - smith–lemli–opitz syndrome , medicine , craniofacial , craniofacial abnormality , cholesterol , dental anomalies , pediatrics , reductase , enzyme , psychiatry , dentistry , 7 dehydrocholesterol reductase , biochemistry , chemistry
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 Δ 7 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.