The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic : case reports and literature review Universiteit Gent
Objective > Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder. It is due to a deficiency of 7-dehydrocholesterol reductase (DHCR7) that catalyses the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. The aim of this review is to gather all information, concerning diagnostic characteristics of this syndrome, with an emphasis on intraoral symptom presentation. Materials and methods > We conducted a review of the ...