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 iscaused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol Δ7reductase (7-DHC reductase),the catalyst involved in the final step of cholesterol biosynthesis, with the consequence of an increased serumlevels of 7-DHC and generalised cholesterol deficiency. Case Report A 5-year-old female child was referred tothe Department of Paediatric Dentistry of the University of Palermo for caries, gingivitis and malocclusion. Themedical history revealed the diagnosis of SLOS, confirmed by a biochemical analysis 5 weeks after birth. Thechild exhibited several dysmorphic craniofacial features, typical of SLOS. Dental treatment, including oralprophylaxis, was performed without sedation. Instructions on proper oral self-care and dental disease preventionwere provided to the mother of the patient. Conclusion Suggestions regarding comprehensive dental care may beimportant to properly treat children with SLOS in the dental office.
|Numero di pagine||4|
|Rivista||EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY|
|Stato di pubblicazione||Published - 2008|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health