RT Journal Article
SR Electronic
T1 Clinical and radiological findings in a severe case of cleidocranial dysplasia
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr-2018-226671
DO 10.1136/bcr-2018-226671
VO 2018
A1 Priti P Lotlikar
A1 Adriana G Creanga
A1 Steven R Singer
YR 2018
UL http://casereports.bmj.com/content/2018/bcr-2018-226671.abstract
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.