Osteopetrosis : Mnemonic


  1. Marble bone disease
  2. Albers-Schonberg disease (Autosomal dominant form)


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)

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