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There are two classic patterns of inheritance:

Autosomal recessive:

  • this is the malignant form of osteopetrosis
  • abnormalities are present in utero or infancy
  • anaemia and neutropenia result from obliteration of the marrow cavities
  • extramedullary haematopoiesis results in hepato- splenomegaly
  • narrowing of the foramina in the skull may result in hydrocephalus or cranial nerve palsies

Autosomal dominant:

  • this is the more benign adult form of osteopetrosis
  • anaemia is mild
  • neurological involvement is rare
  • the main complaint is a predisposition to fractures

Last reviewed 01/2018