Oral manifestations of ellis-van creveld syndrome. A rare case report

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Abstract

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is an autosomal recessive disorder, characterized by dwarfism, polydactyly, hypoplastic fingernails and congenital heart defects, finding in most of the cases orofacial anomalies. We describe a clinical case of a 9 year old male patient diagnosed with EVC who visited our Maxillofacial private consultation at Alcorcon Southern Hospital, presenting typical oral manifestations such as dental agenesis, delayed eruption, hypoplasia of the enamel, dental dysmorphism, taurodontism and supernumerary teeth. EVC syndrome is a rare disease and requires a multidisciplinary approach. Oral features are constant and requires the jointly performance of Odontologist and Maxillofacial surgeon aiming to get an appropriate treatment sequence surgery-orthodontics in order to achieve a suitable functional result to improve the quality of life of these patients.

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Peña-Cardelles, J. F., Domínguez-Medina, D. A., Cano-Durán, J. A., Ortega-Concepción, D., & Cebrián, J. L. (2019). Oral manifestations of ellis-van creveld syndrome. A rare case report. Journal of Clinical and Experimental Dentistry, 11(3), e290–e295. https://doi.org/10.4317/jced.55543

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