Smith-Lemli-Opitz syndrome: a review, case report and dental implications.
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.
Muzzin
Kathleen B
KB
Caruth School of Dental Hygiene, Baylor College of Dentistry, Texas A & M University Health Science Center, 3302 Gaston Avenue, Dallas, TX 75246, USA. kmuzzin@tambcd.edu
Harper
Lisa F
LF
D000328:Adult; D002972:Cleft Palate / Q000209:etiology; D005260:Female; D006801:Humans; D008312:Malocclusion, Angle Class II / Q000209:etiology; D008844:Micrognathism / Q000209:etiology; D009056:Mouth Abnormalities / Q000209:etiology*; D024343:Open Bite / Q000209:etiology; D019082:Smith-Lemli-Opitz Syndrome / Q000473:pathology*; D014071:Tooth Abnormalities / Q000209:etiology*