title: Ellis-van Creveld syndrome. Case report and literature review.
abstract: Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes.
authors.affiliation: Oral Surgery and Implantology, School of Dentistry of the University of Barcelona, Spain.
authors.forename: Daniela
authors.initials: D
authors.lastname: Alves-Pereira
authors.forename: Leonardo
authors.initials: L
authors.lastname: Berini-Aytés
authors.forename: Cosme
authors.initials: C
authors.lastname: Gay-Escoda
mesh_terms: D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D009056:Mouth Abnormalities / Q000175:diagnosis*; D010641:Phenotype; D055815:Young Adult