Multiple Hereditary Exostosis, Diaphyseal Dysplasia, Osteopetrosis

Multiple Hereditary Exostosis

AD

EXT 1 and 2
1 in 4000
Osteochondroma
Cease growth at maturity
10% malignant change
to osteosarcoma
Knee and proximal femur
Sessile
Tendon insertion sites

Diaphyseal Dysplasea

AD
Cortical thickening of long bones
Widened diaphysis
Tibia and femur
NSAIDs
LLD a problem

Osteoporosis

Marble bone disease
Decreased osteoclast function
Cartilage trapped in bone
Infantile form is AR and needs BMT of osteoclast pre-cursors
AD form is tarda with rugger jersey spine and pathological fractures