PT  - JOURNAL ARTICLE
AU  - Priti P Lotlikar
AU  - Adriana G Creanga
AU  - Steven R Singer
TI  - Clinical and radiological findings in a severe case of cleidocranial dysplasia
AID  - 10.1136/bcr-2018-226671
DP  - 2018 Nov 12
TA  - BMJ Case Reports
PG  - bcr-2018-226671
VI  - 2018
4099  - http://casereports.bmj.com/content/2018/bcr-2018-226671.short
4100  - http://casereports.bmj.com/content/2018/bcr-2018-226671.full
AB  - Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Patients with CCD show the classical features of excessive mobility of the shoulder bone, lack of resorption of the deciduous teeth, failure to erupt permanent teeth, multiple impacted and supernumerary teeth, and open fontanelle and sutures of the skull. In this article we report a case of CCD in a 16-year-old male patient, with an aim to highlight the clinical, radiological and recommended treatment guidelines.