Imaging Science in Dentistry

Korean Academy of Oral and Maxillofacial Radiology (대한영상치의학회)
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Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

  • Lu, Hui (Guanghua School of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-Sen University) ;
  • Zeng, Binghui (Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University) ;
  • Yu, Dongsheng (Guanghua School of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-Sen University) ;
  • Jing, Xiangyi (Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University) ;
  • Hu, Bin (Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University) ;
  • Zhao, Wei (Guanghua School of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-Sen University) ;
  • Wang, Yiming (Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University)
  • Received : 2015.01.12
  • Accepted : 2015.04.07
  • Published : 2015.09.30
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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.

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References

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