Osteopetrosis
Osteopetrosis is also known as 'marble bone disease' to denote the main features of the disease:
- overgrowth and sclerosis of bone
- thickening of the cortex
- narrowing or even obliteration of the medullary cavity
Despite such a quantity of dense bone the skeleton is brittle and liable to fracture.
Reference
- Penna S, Villa A, Capo V; Autosomal recessive osteopetrosis: mechanisms and treatments. Dis Model Mech. 2021 May 1;14(5)
- Del Fattore A, Cappariello A, Teti A; Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29.
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