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
