Types
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
Reference
- Del Fattore A, Cappariello A, Teti A; Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29.
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