Ellis Van Creveld Syndrome: Report of a case with follow-up of 6 years.

Abstract

Introduction: The Ellis Van Creveld Syndrome, with mutations in gens EVC and EVC2, located in the chromosome 4p16.2, was described by Richard W.B. Ellis and Simon Van Creveld in 1930. It has an incidence of 7:1.000.000. Among the clinical characteristics, patients present: postaxial polydactyly in hands and feet, large bones, chondrodysplasia, ectodermic dysplasia, cardiac malformations (more commonly a primary atrial septation defect, present in 60% of the cases). At the oral manifestations we can find: multiple frenums, cleft lip and palate, hypodontia, slow eruption or early exfoliations, natal teeth presence, peg-shaped teeth, enamel hypoplasia, gingivolabial sulcus effacement and malocclusion. Objective: Identify the clinical manifestations in order to offer a correct interdisciplinary treatment. Development: 8 year old female patient, with  follow-ups being realized at the Clinic of the Specialty of  Pediatric dentistry of the  University of Guadalajara since she was 18 months old, where she has received dental treatments such as: pulpotomy with MTA (Mineral Trioxid Aggregate), following the rehabilitation with Equia Forte ionomer; light cure resin fillings in teeth 64, 65, 74 and 75 with previous antibiotic prophylaxis. Nowadays, her cul-de-sac lengthening surgery is being planified by the oral and maxillofacial surgery service.