title: Brothers with Smith-Lemli-Opitz syndrome.
abstract: Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers.
authors: Maria N
authors: MN
authors: Kelly
authors: Sanjeev Y
authors: SY
authors: Tuli
authors: Sonal S
authors: SS
authors: Tuli
authors: Mori A
authors: MA
authors: Stern
authors: Beverly P
authors: BP
authors: Giordano
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000097:blood / Q000235:genetics; D035781:Siblings; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase
keywords: Inherited metabolic error; autosomal recessive; cholesterol; developmental delays