Craniofacial ciliopathies: An expanding oral disease spectrum - a review of literature and a case report

Indian J Dent. 2016 Sep;7(3):153-157. doi: 10.4103/0975-962X.180315.


For all intents and purposes, craniofacial development is initiated as soon as the anteroposterior axis of an embryo is established. Although the neural crest receives a significant amount of attention, craniofacial tissue has more patterning information than other tissues of the body. New studies have further clarifi ed the contribution of ciliary epithelia as a source of patterning information for the face. In this paper, we review the craniofacial anomalies in patients with ciliopathies, in which orofacial region is a pivotal recognition of the disorder. Also, a case report of a patient with suspected ciliopathy has been presented along with a logical approach for diagnosis of such disorders.

Keywords: Ciliary dysfunction; craniofacial ciliopathies; hypertelorism; postaxial polydactyly syndrome.

Publication types

  • Case Reports