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Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.
- Source :
- Imaging Science in Dentistry; 2015, Vol. 45 Issue 3, p187-192, 6p
- Publication Year :
- 2015
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 22337822
- Volume :
- 45
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- Imaging Science in Dentistry
- Publication Type :
- Academic Journal
- Accession number :
- 110053126
- Full Text :
- https://doi.org/10.5624/isd.2015.45.3.187