Autosomal recessive osteopetrosis: case report of two siblings

Malignant osteopetrosis is a rare congenital disorder of bone resorption, occurring in less than 1 in 200 000 births. It is caused by the failure of osteoclasts to resorb immature bone. We report on two siblings with autosomal recessive osteopetrosis. The prominent clinical features were short stature, progressive blindness, defective development of primary and permanent teeth, and anemia.