Head and neck manifestations of malignant osteopetrosis

Malignant osteopetrosis is the autosomal recessive form of osteopetrosis. Besides anemia, hepatosplenomegaly, and the osteopetrotic bone seen on roentgenogram, the head and neck manifestations are important to the diagnosis and clinical course of this disease. Eye, ear, nose, face, teeth, mandible, maxilla, central nervous system structures, and cranial nerves are often involved.