Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient
Imaging Science in Dentistry
; : 187-192, 2015.
Article
in En
| WPRIM
| ID: wpr-71150
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Skull
/
Sutures
/
Tooth, Deciduous
/
Tooth, Supernumerary
/
Transcription Factors
/
Odontoma
/
Clavicle
/
Cleidocranial Dysplasia
/
Cone-Beam Computed Tomography
/
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Imaging Science in Dentistry
Year:
2015
Document type:
Article