It is possible that these cases are new or spontaneous gene mutations. Because the gene is recessive, each parent will be normal, not showing any symptoms of the disease. Usually, there is no history of severe, congenital osteopetrosis in the family prior to the diagnosis of the first child. If parents have one child with severe osteopetrosis, there is a 1 in 4 chance for each pregnancy that a subsequent child will be affected. The intermediate form may be inherited in either an autosomal recessive or an autosomal dominant fashion.
Most cases occur sporadically, however, with no known inheritance pattern.
Diagnosis Diagnosis for osteopetrosis is made when dense bones are found on X-rays. The diagnosis usually is confirmed by taking a sample of the bone to determine the precise nature of the disease. A variety of additional studies are done to look for any problems, such as hearing and vision testing, X-rays, blood counts and brain imaging. BMT is the only therapy that has resulted in a complete cure of the severe malignant infantile form of osteopetrosis. BMT replaces the abnormal osteoclasts, or cells that breakdown bones, with normal cells.