Infantile or malignant osteopetrosis: case report of two siblings.

Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy respiration, progressive blindness and developmental delay.