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  • 标题:Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient
  • 本地全文:下载
  • 作者:Lu, Hui ; Zeng, Binghui ; Yu, Dongsheng
  • 期刊名称:Imaging Science in Dentistry
  • 印刷版ISSN:2233-7822
  • 出版年度:2015
  • 卷号:45
  • 期号:3
  • 页码:187-192
  • DOI:10.5624/isd.2015.45.3.187
  • 语种:English
  • 出版社:Korean Academy of Oral and Maxillofacial Radiology
  • 摘要:

    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.

  • 关键词:Cleidocranial Dysplasia; Cone-beam computed tomography; Odontoma; Tooth, Supernumerary
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