Types
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)
Risk factors
Autosomal recessive inheritance
Lab/Imaging
Nl OC
Possible inc alk phosphatase