Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.
10.5624/isd.2015.45.3.187
- Author:
Hui LU
1
;
Binghui ZENG
;
Dongsheng YU
;
Xiangyi JING
;
Bin HU
;
Wei ZHAO
;
Yiming WANG
Author Information
1. Guanghua School of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-Sen University, Guangzhou, China. zhaowei3@mail.sysu.edu.cn
- Publication Type:Case Report
- Keywords:
Cleidocranial Dysplasia;
Cone-Beam Computed Tomography;
Odontoma;
Tooth, Supernumerary
- MeSH:
Clavicle;
Cleidocranial Dysplasia*;
Cone-Beam Computed Tomography;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Humans;
Odontoma;
Skull;
Sutures;
Tooth, Deciduous;
Tooth, Supernumerary;
Transcription Factors;
Young Adult
- From:Imaging Science in Dentistry
2015;45(3):187-192
- CountryRepublic of Korea
- Language:English
-
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.
