关键词: Ciliary dysfunction craniofacial ciliopathies hypertelorism postaxial polydactyly syndrome

来  源:   DOI:10.4103/0975-962X.180315

Abstract:
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.
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