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Related Experiment Video

Updated: Feb 23, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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[Cleidocranial dysplasia: a case report].

Olga Medina1, Nelson Muñoz1, Carlos Moneriz2

  • 1Hospital Naval, Cartagena, Colombia.

Revista Chilena De Pediatria
|September 13, 2017
PubMed
Summary
This summary is machine-generated.

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Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and dental development. Early diagnosis of this RUNX2 gene mutation is crucial for patient quality of life.

Area of Science:

  • Genetics
  • Skeletal Dysplasias

Background:

  • Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder.
  • Characterized by dental anomalies and bone abnormalities, often linked to RUNX2 gene mutations.

Observation:

  • A case report of a 3-year-old patient clinically diagnosed with CCD.
  • The patient presented with characteristic features including cranial bone and thoracic abnormalities.

Findings:

  • Molecular analysis confirmed a pathogenic variant c.674G>A in the RUNX2 gene.
  • This genetic finding validated the diagnosis of Cleidocranial dysplasia.

Implications:

  • Early diagnosis of CCD is vital for improving patient outcomes.
  • Facilitates timely intervention and management for a better quality of life.

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