CASE REPORT: REPORTING THE ORO-DENTAL FINDINGS OF ELLIS-VAN CREVELD SYNDROME – A RARE GENETIC DISORDER

Abstract

<h3>Introduction</h3> Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, which is also known as chondroectodermal dysplasia. It is caused by genetic mutation in 2 genes: EVC1 and EVC2. The syndrome has a rare occurrence with a prevalence of 1 in 60,000 to 200,000 worldwide. EVC consists of a distinctive tetrad of various clinical manifestations: chondrodysplasia of tubular bones leading to dwarfism, polydactyly plus syndactyly, ectodermal dysplasia comprising of sparse hair together with dystrophic nails, and congenital morbus cordis commonly involving the single atrium and ventricular septal defect. In addition to the characteristic features, EVC also consists of a unique set of oral manifestations. The present case discusses the various oro-dental findings in a young patient of this rarely reported syndrome. <h3>Case Report</h3> A 7-year-old male patient visited Jinnah Sindh Dental Outpatient Department with a complaint of missing maxillary anterior teeth. In the present case, the patient had a history of consanguineous marriage of parents, supporting the recessive nature of the disorder. <h3>General Examination</h3> The general examination showed that the patient had disproportionate short stature. The limbs were short with postaxial polydactyly affecting both hands. The nails were thin and dystrophic. Other findings were hypertelorism and broad depressed nasal bridge. <h3>Oral Examination</h3> The oral examination revealed absence of mandibular anterior mucobuccal fold, mandibular hyperplastic frenula, labiogingival adhesions, serrated appearance of the gingiva, and morphological abnormalities of mandibular anterior teeth with prominent diastema. The maxillary incisors were absent. Multiple frenulum and attaching labial mucosa to alveolar mucosa were also observed.