Clinical and radiological manifestations of cleidocranial dysplasia: A case report

Cleidocranial dysplasia is a rare hereditary disorder affecting bones and teeth. It can be inherited or can arise spontaneously. It is usually caused by a mutation in the Runx2 gene located on 6p21 chromosome. CCD is associated with complete absence or hypoplasia of the clavicles, delayed or deficient closure of the fontanellas and open sutures, retarded exfoliation of the deciduous teeth, retarded eruption of the permanent teeth and multiple impacted supernumerary teeth. Clinical and radiographic examination display abnormalities of bone and teeth. The main aim of this study is to discuss the diagnostic tools, clinical and genetic features of this disorder and review the literature. Radiographs of skull, teeth, clavicle and pelvis were the diagnostic evidences of our case.