Clinicoradiological features in cleidocranial dysplasia – case report

Abstract

Objective: The purpose of thid study is describe a case of cleidocranial dysplasia. A cleidocranial dysplasia (CCD) is a rare autossomal dominant skeletal disease (1:1.000.000) that affects generally clavicular and cra- nial bones, caused by a defect in the CBFA1 gene, that regulates differentiation of osteoblasts and appropriate bone formation. Case report: this study presents a case of a 9-year-old boy with CCD, who has being accom- panied for 3 years in the ambulatory of the discipline of Pediatric Dentistry, Faculty of Dentistry, Federal Uni- versity of Bahia. Clinical and radiographic abnormali- ties like short stature, hipoplastic clavicle of the right side, presence of an enlarged cranium, hypertelorism, hipoplastic maxillary bones as well as delayed perma- nent tooth eruption and the presence of supernumerary teeth confirmed the diagnosis of CCD. After the neces- sary restorative and preventive procedures were done, an orthopedic/orthodontic and surgical treatment was proposed. Final considerations: the early detection of this disease is essential for a proper treatment, in order to reduce the extent of surgical and orthodontic inter- ventions in future.