Cleidocranial Dysplasia: A New Mutation

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder with rare de novo mutations and with an incidence of 1/1. It is generally seen as a result of mutations in the RUNX2 gene in chromosome 6p21 that regulates normal osteoblastic differentiation and appropriate bone formation (1,2). In such bone dysplasia, flat bones such as head bones, clavicle, and teeth are affected. Short stature, frontal and parietal bossing, seperated cranial sutures, late closure of fontanels, hypoplasia or aplasia of clavicles, maxilla hypoplasia, hypoplasia of iliac wings and brachydactyly can be seen. Although the eruption time of primary teeth is normal, early tooth loss may accompany in adulthood (1,3). In affected cases, the clavicles may not be present partially or completely. Therefore, increased opposition at the shoulders is a specific finding for this disease (4). The diagnosis is confirmed by clinical findings, radiological examinations and gene sequence analysis. Cases should be followed for orthopedic complications, dental anomalies, upper respiratory tract obstruction, sinus and ear infections, hearing loss, osteoporosis and osteopenia. There is no specific treatment for CCD. Bone deformities can be operated after 5 years of age and orthodontic intervention may be required due to tooth loss (5). CASE REPORT Written consent was obtained from the mother of the patient to present the case.