Cleidocranial dysplasia- Clinico-radiological presentation of 2 cases

Abstract

Cleidocranial dysplasia or cleidocranial dystosis is an autosomal dominant syndrome, best known for its dental and skeletal abnormalities. The term cleido refers to clavicle; cranial refers to head; and dysplasia means “ill formed” (Feldman, 2002). It is caused by mutations in major regulator of bone differentiation which is known as transcription factor RUNX2. In first case a 18year old female patient visited the department as case of missing upper front teeth. On clinical examination features were suggestive of cleidocranial dysplasia which was later confirmed with radiological investigations for rudimentary clavicles and impacted supernumerary teeth and open fontanelles. There was no such family history present. In the second case patient had similar history in father and paternal uncle.