Synonyms:
- Marble bone disease
- Albers-Schonberg disease (Autosomal dominant form)
Mnemonic: OSTEOPETROSIS
Osteoclast dysfunction (Carbonic anhydrase II gene mutation or chloride channel dysfunction)
Symmetric skeletal sclerosis
Thickened cortex with loss of medullary canal diameter (bone in bone appearance)
Extramedullary hematopoiesis (aplastic anemia and hepatosplenomegaly)
Overgrowth of skull foramina (cranial nerve palsies)
Pelvis – coxa vara; Pathologic fractures
Erlenmeyer flask deformity (loss of metaphyseal flare)
Treatment by transplantation of bone
Rugger jersey spine
Operative indication for proximal femur fractures
Spondylolysis and Sandwich vertebra (sclerotic endplates)
Interferon gamma-1 beta (for autosomal dominant form)
Severity: Autosomal dominant (benign), Autosomal recessive (intermediate or malignant)
He is the section editor of Orthopedics in Epomedicine. He searches for and share simpler ways to make complicated medical topics simple. He also loves writing poetry, listening and playing music.