Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.

Abstract

Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

• Authors: Hui Lu, Binghui Zeng, Dongsheng Yu, Xiangyi Jing, Bin Hu, Wei Zhao, Yiming Wang
• Journal: Imaging science in dentistry (Imaging Sci Dent) Vol. 45 Issue 3 Pg. 187-92 (Sep 2015) ISSN: 2233-7822 [Print] Korea (South)
• PMID: 26389062 (Publication Type: Case Reports)