Craniofacial features of cleidocranial dysplasia

Abstract

Cleidocranial dysplasia (CCD) is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD.

Keywords: Runx2; cleidocranial dysplasia; mutation; supernumerary teeth.

Figure 1

A. Chest radiograph of a 15-year-old female showing aplasia of clavicles on both sides, scoliosis of the thoracic spines, a tapered thorax with oblique ribs, and incomplete closure of neural arches of the cervical vertebrae. Figure 1B Lateral cephalograph showing frontal, parietal and occipital bossing; patency of the anterior fontanelle; and persistently open skull sutures and multiple wormian bones in the coronal and lambdoid suture regions. Dense alveolar crestal bone is visible in the anterior mandible. Figure 1C Panoramic radiograph of a 17-year-old female showing multiple impacted supernumerary and permanent teeth, retained deciduous teeth, hypoplastic maxillary sinus, severe downward tilt and discontinuity of the right zygomatic arch, discontinuity of the left arch, narrow ascending ramus with nearly parallel anterior and posterior borders, and an abnormally slender and pointed coronoid process with an abnormally distal curvature. The trabecular patterns of the maxilla and mandible were very coarse. Dense alveolar crestal bone is visible in the anterior mandible.