Osteopetrosis

Background

• Also known as marble bone disease
• Group of genetic disorders characterized by defects in osteoclast function
• Bone resorption is decreased, and results in diffuse symmetric skeletal sclerosis with brittle, easily-fractured bones

Investigations

• X-rays of the long bones may note Erlenmeyer flask deformity (bulbous ends of the long bones)

Management

• Treated with bone marrow transplantation