Autosomal dominant (Albers-Schonberg) (ARO)

defining characteristics

Spine sclerosis with sandwich vertebrae (rugger jersey spine), variable penetrance/ severity

disease development

Mutation in TC1RG1 causes inability of osteoclast to secrete hydrogen ions into the bone matrix, thereby decreasing bone resorption

potential causes

epidemiology

Late childhood/ adolescence onset

risk factors

labimaging

XR? Rugger jersey spine

conventional treatment

complications

Fractures, osteomyelitis, possible nerve compression

prevention

protocols