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Related Experiment Video

Updated: Jul 16, 2025

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Cleidocranial Dysplasia: A Rare Case Report.

Akshay A Dhobley1, Aparna V Thombre2, Dipak Ghatage1

  • 1Department of Oral Pathology and Microbiology, Government Dental College and Hospital, Nagpur, Maharashtra, India.

Journal of Pharmacy & Bioallied Sciences
|September 11, 2023
PubMed
Summary

Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and teeth development, caused by RUNX2 gene mutations. This report details a rare case in a 23-year-old female, highlighting characteristic skeletal and dental anomalies.

Keywords:
Cleidocranial dysplasiaRUNX2dysostosis

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Area of Science:

  • Genetics
  • Orthodontics
  • Pediatric Dentistry

Background:

  • Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder affecting bone and teeth development.
  • It results from RUNX2 gene mutations, leading to skeletal anomalies and dental issues.
  • CCD occurs in approximately 1 in a million individuals, with no gender or ethnic predilection.

Observation:

  • A rare case of CCD is presented in a 23-year-old female.
  • The patient exhibited characteristic features of the syndrome.
  • Key manifestations included skeletal abnormalities and significant dental anomalies.

Findings:

  • The patient presented with generalized bone and teeth dysplasia, typical of CCD.
  • Dental findings included delayed tooth exfoliation, delayed permanent tooth eruption, and impacted supernumerary teeth.
  • Absence of cellular cementum was also noted, a common dental hallmark of CCD.

Implications:

  • This case underscores the importance of recognizing the diverse clinical manifestations of CCD.
  • Accurate diagnosis and management are crucial for addressing the skeletal and dental challenges in CCD patients.
  • Further research into the RUNX2 gene's role may offer insights into novel therapeutic strategies for bone and tooth development disorders.