CLEIDOCRANIAL DYSPLASIA IN A 12-YEAR-OLD MALE PATIENT: A CASE REPORT
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Abstract
Cleidocranial dysplasia (CCD) is a rare congenital skeletal disorder characterized by defective intramembranous ossification, most notably involving the clavicles and craniofacial bones. It is commonly associated with mutations in the Runx2 gene. Diagnosis is primarily clinical, based on the recognition of characteristic skeletal features, and is supported by radiological imaging, particularly X-rays.
The objective of this report is to describe and report an incidental diagnosis of CCD in a 12-year-old male patient who presented with respiratory symptoms and underwent a chest X-ray for suspected chest infection at a diagnostic centre in Osogbo, Nigeria.
In the case we report, patient’s lungs and cardiac silhouette were unremarkable, careful image evaluation revealed bilateral absence of the clavicles. Correlation with physical findings, including excessive shoulder mobility and narrow, drooping shoulders, confirmed the diagnosis of CCD.
This case highlights the importance of radiographer vigilance, thorough image assessment beyond the primary clinical indication, and the potential to identify rare skeletal disorders during routine imaging examinations.
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