Oral abnormalities in the Ellis-van Creveld syndrome

Indian J Dent Res. 2010 Jan-Mar;21(1):143-5. doi: 10.4103/0970-9290.62791.

Abstract

Ellis-van Creveld (EvC) syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anodontia / etiology
  • Consanguinity
  • Ellis-Van Creveld Syndrome / complications*
  • Female
  • Humans
  • Labial Frenum / abnormalities
  • Tooth Abnormalities / etiology*