Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management
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İsmet Rezani Toptancı 1 * , Hakan Çolak, Serhat Köseoğlu
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1 Dicle University, Dental Faculty, Department of Pedodontics, Diyarbakır, Turkey* Corresponding Author

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal change. Cleidocranial dysplasia is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2 (RUNX2). Individuals with CCD should be followed by either a team of specialist or by individual specialist familiar with the problems that can be associated with this condition.

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Article Type: Review

J Clin Exp Invest, 2012, Volume 3, Issue 1, 133-136

https://doi.org/10.5799/ahinjs.01.2012.01.0131

Publication date: 13 Mar 2012

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