Report of two familial cases of cleidocranial dysostosis

Abstract

Cleidocranial Dysostosis is a relatively rare congenital syndro- me, which presents characteris- tic skeletal anomalies and mani- festations in the oral cavity. It is described as a genetic disease, of dominant autosomal inheritan- ce, related to the loss of one allele of the gene CBFA1. The clinical appearance is pathognomonic, the most characteristical sign is the hypoplasia or aplasia of clavicles and the involvement of the oral cavity and the upper two-thirds of the face. The objective of this study is to describe two clinical cases of Cleidocranial Dysostosis, as well as to review the pertinent litera- ture and to focus the clinical and radiographic aspects, providing a better conduct for this syndrome. Key words: cleidocranial dysplasia, osteodentinary dysplasia, mutatio- nal dysostosis, Marie-Sainton Syn- drome.