CLEIODOCRANIAL DYSPLASIA – A RARE CASE REPORT

Abstract

Background and aim: Cleidocranial dysplasia(CCD) also known as cleidocranial dysostosis is an autosomal dominant malformation syndrome. It affects both sexes equally. Its prevelance is estimated 1:1 million. It can be herited or arises as result of sporadic mutation. Cleidocranial dysplasia is caused by a mutation in the RUNX2 gene on chromosome 6. The most prevalent features associated with CCD are aplastic or hypoplastic clavicles, impacted supernumerary teeth, delayed eruption of permanent teeth, and a hypoplastic maxilla. Hence,this case report was presented with the aim to show the salient features of cleidocranial dysplasia.

Case presentation: We hereby report a case of cleidocranial dysplasia in a 16 year old male patient with no familial pattern of inheritance since the patient is the only member in the family suffering from such disorder. We reported this case because of the extremely low incidence of this disorder.

Conclusion: Early diagnosis allows a proper orientation for the treatment, offering a better compliance to the patient and with anticipatory guidance people with CCD lead healthy and productive life.

Keywords: cleidocranial dysplasia, delayed eruption, autosomal dominant, mutation