Síndrome Ellis-van Creveld: manifestações bucais e tratamento

Resumo (EN)

The Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disease, with incidence of 1:244,000 for the general population. The exact prevalence is unknown, but believed to be a genetic chromosomal disorder and a higher incidence in women. EVC consist of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome many other organs can be compromised and other oral manifestations may be present. We report a case of a patient, 17 years old, female, presenting the typical features of EVC and the medical report confirming the condition. Attended at the Center for the Studies and Care of Special Patients of University Paulista – São Paulo, Brazil, seeking dental treatment, reported being dissatisfied with the aesthetic. We analyze the events and the patient's oral condition and its treatment recommended. This study was previously submitted and approved by the University Paulista Ethic Committee with the protocol nº 642/09.