hrp0082p2-d2-303 | Bone (1) | ESPE2014

Cleidocranial Dysplasia Misdiagnosed as Rickets in Three Generations

Franceschi Roberto , Maines Evelina , Fedrizzi Michela , Rosaria Piemontese Maria , Bellizzi Maria , Cauvin Vittoria , Di Palma Annunziata

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...