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

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Abstract

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.
Lingua originaleEnglish
pagine (da-a)19-22
Numero di pagine4
RivistaEUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY
Volume9
Stato di pubblicazionePublished - 2008

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All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Dentistry(all)

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