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Oral manifestations of Smith-Lemli-Opitz Syndrome: a paediatric case report

Type:  Articles

Pubblication date:  /4/2008


Language:  English

Institution:  Department of Oral Sciences, University of Palermo, Italy

Publication:  European Journal of Paediatric Dentistry

Publisher:  Ariesdue Srl

Keywords:  Smith-Lemli-Opitz Syndrome, Cholesterol metabolism, 7-dehydrocholesterol reductase, Craniofacial manifestations.

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Email:  [email protected]

Title:  Oral manifestations of Smith-Lemli-Opitz Syndrome: a paediatric case report

Abstract:  Background The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive genetic disorder, characterised by multiple congenital malformations, dysmorphic facial features and mental retardation. SLOS is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol D7reductase (7-DHC reductase), the catalyst involved in the final step of cholesterol biosynthesis, with the consequence of an increased serum levels of 7-DHC and generalised cholesterol deficiency. Case Report A 5-year-old female child was referred to the Department of Paediatric Dentistry of the University of Palermo for caries, gingivitis and malocclusion. The medical history revealed the diagnosis of SLOS, confirmed by a biochemical analysis 5 weeks after birth. The child exhibited several dysmorphic craniofacial features, typical of SLOS. Dental treatment, including oral prophylaxis, was performed without sedation. Instructions on proper oral self-care and dental disease prevention were provided to the mother of the patient. Conclusion Suggestions regarding comprehensive dental care may be important to properly treat children with SLOS in the dental office.

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