Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Dec;12(4):313-318.
doi: 10.1016/j.jds.2017.07.002. Epub 2017 Oct 19.

Craniofacial features of cleidocranial dysplasia

Chin-Yun Pan  1   2 , Yu-Chuan Tseng  1   2 , Ting-Hsun Lan  2   3 , Hong-Po Chang  2   4
Affiliations
Review

Craniofacial features of cleidocranial dysplasia

Chin-Yun Pan et al. J Dent Sci. 2017 Dec.

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.

PubMed Disclaimer

Figures

Figure 1
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.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. McNamara C.M., O'Riordan B.C., Blake M., Sandy J.R. Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol. 1999;28:89–97. - PubMed
    1. Martin S. Sur un déplacement natural de la clavicule. J Med Chir Pharmacol. 1765;23:456–460.
    1. Scheuthauer G. Kombination rudimentärer Schüsselbeine mit Anomalien des, Schädels biem erwachsenen Menschen. Allg Wien Med Ztg. 1871;16:293–295.
    1. Marie P., Sainton P. Sur la dysostose cléido-cranienne héréditaire. Rev Neurol. 1898;6:835–838. - PubMed
    1. McKusick V.A., Scott C.I. A nomenclature for constitutional disorders of bone. J Bone Jt Surg Am. 1971;53A:978–986. - PubMed

LinkOut - more resources