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Albers-Schonberg disease

Authoring team

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

  1. Penna S, Villa A, Capo V; Autosomal recessive osteopetrosis: mechanisms and treatments. Dis Model Mech. 2021 May 1;14(5)
  2. Del Fattore A, Cappariello A, Teti A; Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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