Cleidocranial Dysplasia: A Case Report Highlighting Dental, Craniofacial, and Skeletal Complexity

Cleidocranial dysplasia (CCD) is a rare congenital skeletal disorder characterized by clavicular hypoplasia, craniofacial anomalies, and complex dental abnormalities, commonly caused by RUNX2 gene mutations. This report describes a 25-year-old female who presented with acute dental pain. Clinical examination revealed short stature, frontal bossing, open fontanelles, and retained primary teeth. Radiographic assessments, including panoramic radiography, chest X-ray, and cone-beam computed tomography, confirmed the presence of clavicular hypoplasia, multiple impacted and supernumerary teeth, Wormian bones, and delayed tooth eruption. Quantitative analysis of the panoramic radiograph was performed using established diagnostic criteria, including zygomatic arch downward bend, distance between coronoid and condyle, and best-fit gonial circle measurements, which further supported the diagnosis. A definitive diagnosis of CCD was made based on clinical and radiological findings in the absence of genetic confirmation. Emergency root canal treatment was performed to relieve acute irreversible pulpitis in tooth 46. Although genetic testing and definitive surgical-orthodontic rehabilitation were not pursued due to socioeconomic constraints, the case highlights the importance of conventional imaging in reaching a diagnosis in low-resource settings. It highlights the importance of early recognition and multidisciplinary care to address functional, aesthetic, and psychosocial challenges associated with CCD.