ArticleImaging science in dentistry2015
Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.
Article in Imaging science in dentistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- SCFSignal transduction and targeted therapy · 2026Article
- Odontogenesis-Associated Phosphoprotein (ODAPH) Overexpression in Ameloblasts Disrupts Enamel Formation via Inducing Abnormal Mineralization of Enamel in Secretory Stage.Calcified tissue international · 2022Article
- Cleidocranial dysplasia: a case report and gene mutation analysis.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2022Article
- Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.Medicina (Kaunas, Lithuania) · 2021Article
- Case series of cleidocranial dysplasia: Radiographic follow-up study of delayed eruption of impacted permanent teeth.Imaging science in dentistry · 2019Article
- Case of odontoma-related infection in a cleidocranial dysplasia.BMJ case reports · 2019Article
- Cone-beam CT in paediatric dentistry: DIMITRA project position statement.Pediatric radiology · 2018Review
- Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family.International journal of dentistry · 2018Review
- Novel Mutation of theMolecular syndromology · 2017Article
- Article
- Imaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review.Revista cientifica odontologica (Universidad Cientifica del Sur)Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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