hrp0095p1-230 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Cleidocranial Dysplasia: a 3 Generations Family with a Novel Mutation, and Growth Hormone treatment

Soto-Maior Costa Maria , Carneiro Rita , Galhardo Júlia

Background: Cleidocranial dysplasia (CCD) is a very rare dominantly inherited autosomal bone disorder mainly characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature, and other changes in skeletal patterning and growth. Heterozygous loss-of-function mutations cause the majority of the abnormalities in the run-related transcription factor 2 gene (RUNX2). This gene is located on chromosome 6p21 and i...