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

@article{Pizzo2008OralMO,
  title={Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report.},
  author={Giuseppe Pizzo and Maria Ruth Piscopo and Ignazio Pizzo and Giovanna Giuliana},
  journal={European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry},
  year={2008},
  volume={9 4 Suppl},
  pages={19-22}
}
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 delta7 reductase (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… CONTINUE READING