title: Oral manifestations in Ellis-van Creveld syndrome: report of five cases.
abstract: Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been followed at the Pediatric Dentistry Service of the Hospital Sant Joan de Déu, Barcelona. The present study describes the constant and variable oral findings in these patients, which play an important role in the diagnosis criteria for the syndrome. The presence of a great variety of oral manifestations such as fusion of the upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth, and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.
authors.affiliation: Pediatric Dentistry and Orthodontics Service, University of Barcelona, Barcelona, Spain. acahuana@hsjdbcn.org
authors.forename: Abel
authors.initials: A
authors.lastname: Cahuana
authors.forename: Camila
authors.initials: C
authors.lastname: Palma
authors.forename: Wilber
authors.initials: W
authors.lastname: Gonzáles
authors.forename: Esther
authors.initials: E
authors.lastname: Geán
mesh_terms: D000848:Anodontia / Q000473:pathology; D002648:Child; D004613:Ellis-Van Creveld Syndrome / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D005671:Fused Teeth / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities / Q000473:pathology*; D014071:Tooth Abnormalities / Q000473:pathology*; D014092:Tooth Root / Q000002:abnormalities; D014096:Tooth, Supernumerary / Q000473:pathology