Cleidocranial dysplasia with complex oral manifestations: a case report

Cleidocranial dysplasia (CCD) is a rare inherited skeletal disorder characterized by distinctive skeletal and dental abnormalities, often leading to delayed or missed diagnosis. Dental findings are frequently the most prominent clinical features and may play a key role in identifying the condition.

A 16-year-old girl presented with missing permanent teeth, impaired mastication and esthetic concerns. The patient had previously been diagnosed with growth delay despite normal endocrine evaluation, including growth hormone stimulation testing. The diagnosis of CCD was suspected during dental examination based on characteristic clinical and radiographic features. Clinical assessment revealed short stature, clavicular hypoplasia with shoulder hypermobility and typical craniofacial features. Intraoral findings included prolonged retention of primary teeth, delayed eruption of permanent dentition and Class III malocclusion. Radiographic and CBCT imaging confirmed multiple impacted and supernumerary teeth, delayed cranial suture closure and additional skeletal abnormalities consistent with CCD. A conservative, stage-based treatment approach was adopted to coordinate future surgical and orthodontic interventions according to skeletal maturity. A removable partial denture (RPD) was provided as an interim solution, resulting in improved mastication, speech and esthetics.

This case emphasizes the important role of dental professionals in recognizing undiagnosed systemic conditions such as CCD. Early identification based on dental findings and appropriate timing of intervention are essential for optimizing functional and esthetic outcomes.