Cleidocranial dysplasia with dental problems: a case report

Cleidocranial dysplasia is a rare genetic disorder characterized by a congenital autosomal dominant condition. It leads to hypoplasia of the clavicles, abnormal formation of the teeth, and issues with skeletal and craniofacial bones. This condition is caused by a mutation in the Runt-related transcription factor 2, which is essential for the formation of teeth, cartilage, and bone. Patients with cleidocranial dysplasia exhibit typical polyostotic features, including underdeveloped clavicles, delayed closure of cranial fontanels and sutures, multiple woven bones in the skull, and dental anomalies such as failure of permanent tooth eruption, lack of deciduous tooth resorption, and multiple impacted and supernumerary teeth. This article presents a case of cleidocranial dysplasia in a 22-year-old female patient, aiming to highlight the clinical and radiological aspects of diagnosis.

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Publication Details

Journal
Oral Biology Research
Published
2024-12-31
DOI
https://doi.org/10.21851/obr.48.04.202412.109
Primary Topic
Bone Metabolism and Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Cleidocranial dysplasia with dental problems: a case report

Young‐Mi Jeon, Chang‐Ki Min, Kyoung-A Kim
Oral Biology Research
Bone Metabolism and Diseases
article

Cleidocranial dysplasia with dental problems: a case report

Young‐Mi Jeon, Chang‐Ki Min, Kyoung-A Kim
article en

Abstract

Cleidocranial dysplasia is a rare genetic disorder characterized by a congenital autosomal dominant condition. It leads to hypoplasia of the clavicles, abnormal formation of the teeth, and issues with skeletal and craniofacial bones. This condition is caused by a mutation in the Runt-related transcription factor 2, which is essential for the formation of teeth, cartilage, and bone. Patients with cleidocranial dysplasia exhibit typical polyostotic features, including underdeveloped clavicles, delayed closure of cranial fontanels and sutures, multiple woven bones in the skull, and dental anomalies such as failure of permanent tooth eruption, lack of deciduous tooth resorption, and multiple impacted and supernumerary teeth. This article presents a case of cleidocranial dysplasia in a 22-year-old female patient, aiming to highlight the clinical and radiological aspects of diagnosis.

Oral Biology ResearchVol. 48(4)
Jeonbuk National University (KR)
Jeonbuk National University
Gender equality
Openalex Percentile: Top 79%
Bone Metabolism and Diseases
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