The Edith Wolfson Medical Center. P.O. Box 5, Holon 58100, Israel. Less than 100 cases have been reported. Osteopetrosis is caused by the inability of osteoclasts to reabsorb primary bone and calcified cartilage. Survival after the age of 20 years has not been reported.
Death usually results from infection or anemia.
Before viability, termination of pregnancy should be offered. In utero interventions are a theoretical possibility in patients who want to continue the pregnancy. Introduction Lethal osteopetrosis is a rare autosomal recessive disorder characterized by fragile hyperdense bones and severe neurologic and hematological abnormalities developing after birth. Prenatal diagnosis has been reported by El Khazen et al. in two siblings 1 . These two cases seem to represent an unusually severe form of this disease or a different disease, developing the full picture in utero, which is associated with absent or markedly reduced osteoclasts.