Several forms of osteopetrosis have been described with overlapping clinical and radiographic features. A form with manifestations in the newborn and a progressive course leading to death at an early age is called osteopetrosis with precocious manifestations.
Inheritance is generally autosomal recessive.
Rarely, fractures lead to medical attention. Hyperostosis may crowd the marrow cavity, with anemia and extramedullary hematopoiesis, hepatosplenomegaly, and thrombocytopenia. Anemia 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.