This report describes an unusual case of a 27-year-old male presenting with cleidocranial dysplasia (CCD), a rare genetic disorder affecting bone and dental development. The patient exhibited classic features, including short stature, drooping shoulders with hypermobility, broad forehead, maxillary deficiency, and mandibular prognathism. Intraoral examination revealed multiple missing teeth, retained deciduous teeth, and gingival swelling in the maxillary anterior region. Radiographic evaluation, including orthopantomogram and cone beam CT (CBCT), revealed 45 impacted permanent and supernumerary teeth, a rare finding, along with multiple dentigerous cysts, notably a large cyst in the right maxilla causing cortical plate breaches and nasal cavity displacement. Additional skeletal abnormalities included hypoplastic clavicles, open cranial sutures, and underdeveloped sinuses. Genetic testing confirmed a Runt-related transcription factor 2 (RUNX2 gene) mutation, thus confirming the diagnosis. The extensive number of impacted teeth and cystic lesions sets this case apart from the typical presentations, which usually involve fewer supernumerary teeth and rare cystic changes. The complexity of dental and skeletal anomalies necessitates a multidisciplinary approach involving oral surgery, orthodontics, and prosthodontics to restore function and aesthetics. Early diagnosis through clinical, radiographic, and genetic assessments is crucial to prevent complications, such as cyst expansion or bone resorption. This case emphasizes the importance of comprehensive evaluation and tailored treatment planning in managing the severe manifestations of CCD, highlighting its diverse clinical spectrum and the need for individualized care.
Manhar Kaur Shinh (Wed,) studied this question.