Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p189 | (1) | ICCBH2019

Cleidocranial dysplasia: a patient with severe dental phenotype

Doulgeraki Artemis , Gatzogianni Margarita , Gyftodimou Yolanda , Polyzois Georgios , Athanasopoulou Helen , Agouropoulos Andreas

Background: Cleidocranial dysplasia (CCD) is an ultra-rare (1/1,000,000) genetic bone disorder, characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanelles and multiple dental abnormalities. It is caused by mutations in the RUNX2 gene, involved in the differentiation of osteoblasts.Presenting Problem: A case of a 13 year-old girl with a clinical diagnosis of CCD is reported. Her clavicles were hypoplastic and her shoulders co...