Cleidocranial Dysplasia Presenting With Mixed Dentition in a 28-Year-Old Male: A Case Report

Cleidocranial dysplasia (CCD) is an inherited development anomaly of the skeletal system that is also classified as an autosomal dominant genetic disorder. This is due to a gene mutation on chromosome 6p21 that encodes core binding factor activity a-1 (CBFA1), a member of runt-related transcription factor 2 (RUNX2) found on the short arm of chromosome 6. CCD is a scarce condition and its occurrence is about one per million births. It primarily affects bones that are derived from both endochondral and intramembranous ossification. It is identified by certain clinical and radiological features including open cranial sutures and open anterior fontanelle, aplastic or hypoplastic clavicles, wormian bones, short stature, deformities of the pelvic bones, and various skeletal changes. Patients usually show class III malocclusion because of mandibular hyperplasia and mid-face hypoplasia. Vertical facial growth is reduced due to hypoplasia of the alveolar bone, and permanent teeth eruptions are failed. We reported a case of CCD in a 28-year-old who was referred to OPD for poor esthetics.