Cleıdocranıal Dysplasıa: A Rare Skeletal Dysplasıa

ABSTRACT Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia. Hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature are main features in this syndrome. RUNX2 is the responsible gene for CCD. Here we reported two cases with CCD; they are admitted to clinic for short stature and dental abnormalities. We report these cases to increase the awareness of clinicians

Cleidocranial dysplasia: a dilemma in diagnosis?

Cleidocranial dysplasia is a developmental anomaly and is characterized by craniofacial and skeletal malformations as well as the presence of numerous supernumerary and unerupted teeth. A 16-year-old patient presented with an unaesthetic facial appearance due to unerupted front teeth. General examination showed the absence of the clavicles, a brachiocephalic skull with frontal bossing and a depressed nasal bridge with concave facial profile. Radiographic examination showed multiple supernumerary teeth, rudimentary clavicles with a bell shaped rib cage and an open sagittal suture. A final diagnosis of cleidocranial dysplasia was made and comprehensive management was planned which involved multi disciplinary approach. The role of dentist is vital in the early diagnosis and management of such cases which require interdisciplinary cooperation for better results.