SMITH-LEMLI-OPITZ SYNDROME WITH SEVERE INVOLVEMENT OF THE ORAL CAVITY IN A TEENAGER

Abstract

The Smith-Lemli-Opitz syndrome (SLOS) is a plurimalformative syndrome transmitted by autosomal recessive inheritance. SLOS is caused by the deficiency in the enzyme 7-dehydrocholesterol-delta-reductase (DHCR7) resulting in cholesterol metabolism disorders, more precisely the incapacity to transform dehydrocholesterol into cholesterol. The syndrome is marked by characteristic facial dysmorphism, multiple malformations and intellectual disability. We are reporting the case of a 15 year old patient diagnosed postnatally with bilateral hands and feet polydactyly, and clinodactyly in the 5th toe of the right foot which was surgically treated when the patient was 6 months old. The association with suggestive modifications of the oral cavity (dental impactions, palatoschisis, enlarged alveolar ridges and uvula bifida) that required complex orthodontic therapy and the genetic consult establish the diagnosis of Smith-Lemli-Opitz syndrome.