CLEIDOCRANIAL DYSPLASIA IN A 12-YEAR-OLD MALE PATIENT: A CASE REPORT

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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Journal
JRRS
Published
2026-04-14
DOI
https://doi.org/10.82547/jrrs/2026/ercp3529
Primary Topic
Bone Metabolism and Diseases
Type
article
Field-Weighted Citation Impact
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article

CLEIDOCRANIAL DYSPLASIA IN A 12-YEAR-OLD MALE PATIENT: A CASE REPORT

Ifeoluwa Akangbe, Kudirat Lawal-Adesina
JRRS
Bone Metabolism and Diseases
article

CLEIDOCRANIAL DYSPLASIA IN A 12-YEAR-OLD MALE PATIENT: A CASE REPORT

Ifeoluwa Akangbe, Kudirat Lawal-Adesina
article en

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.

JRRS
Osh State University (KG), Osun State University (NG)
Good health and well-being
Openalex Percentile: Top 7%
Bone Metabolism and Diseases
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CLEIDOCRANIAL DYSPLASIA IN A 12-YEAR-OLD MALE PATIENT: A CASE REPORT — Ifeoluwa Akangbe, Kudirat Lawal-Adesina · JRRS (2026) | TGRS Research Map | TGRS