defining characteristics
Progressive asymmetrical enlargement of mandible (w/o dental malocclusion like osteopet), pain w/ point pressure on longbones
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
Deactivating mutation in
SOST (Wnt inhibitor)
epidemiology
risk factors
Autosomal recessive inheritance
labimaging
Nl OC
Possible inc alk phosphatase
