Osteopetroses Osteopetrosis is part of a spectrum of diseases characterised by generalised increase in skeletal density. Several forms of osteopetrosis have been described with overlapping clinical and radiographic features. It generally follows a progressive course leading to death at an early age.
Inheritance is generally autosomal recessive.
Rarely, fractures lead to medical attention. Hyperostosis may crowd the marrow cavity, with anaemia and extramedullary hematopoiesis, hepatosplenomegaly, and thrombocytopenia. Anaemia appears to result not from inadequate erythropoiesis but from excessive hemolysis. A defect in macrophage killing of bacteria may account for recurrent infection. Bony encroachment on the optic foramina may lead to optic atrophy and blindness.