CLEIDOCRANIAL DYSPLASIA: A FAMILY REPORT

Gharsallah Imene, *Dhahri Rim, Yahyaoui Olfa, Boussetta Najah, Laajili Feida, Othmeni Salah 

ABSTRACT

Cleidocranial dysplasia is a rare autosomal dominant genetic bone disease. Its clinical expression can be surprisingly variable. Clavicular ossification anomalies, facial, pelvic and dental anomalies are the most common and can be considered as major signs. The incomplete penetrance of the disease and its good tolerance explain the frequency of discrete clinical forms of expression or undiagnosed ones. Through observation of a new Tunisian family, we will recall the clinical and laboratory characteristics of this disease.

Keywords: Cleidocranial dysplasia, autosomal dominant transmission, CBFA1, RUNX2.