Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management

Cleidocranial dysplasia (CCD) is an autosomal dominantskeletal dysplasia characterised by abnormal clavicles,patent sutures and fontanelles, supernumerary teeth,short stature, and a variety of other skeletal change. Cleidocranialdysplasia is caused by mutation in the geneon 6p21 encoding transcription factor CBFA1, i.e. runtrelatedtranscription factor 2 (RUNX2). Individuals withCCD should be followed by either a team of specialist orby individual specialist familiar with the problems that canbe associated with this condition. J Clin Exp Invest 2012;3(1): 133-136