Open AccessClinical and radiological findings in a severe case of cleidocranial dysplasia
Author(s) -
Priti P Lotlikar,
Adriana G. Creanga,
Shepherd Roee Singer
Publication year - 2018
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-226671
Subject(s) - cleidocranial dysplasia , medicine , supernumerary , hypoplasia , skull , clavicle , dentistry , osteopetrosis , dysplasia , permanent teeth , osteochondrodysplasia , craniofacial , orthodontics , anatomy , pathology , psychiatry
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.