defining characteristics
BMD T-score >0, no fractures, nl bone remodeling, flat forehead, elongated mandible, toras palatinus (bony protrusion of palate), benign presentation
Heavy bones!
disease development
Disruption of Wnt signaling system causes decreased inhibition of Wnt, resulting in the inhibition of APC/GSK3 complex. Now, B-catenin is active and able to promote transcription of genes involved in osteoblast differentiation,
causing osteosclerosis
potential causes
Mutation in LRP5, prevents binding of DKK1 (Wnt inhibitor)
epidemiology
risk factors
Autosomal dominant inheritance
