How is osteopetrosis diagnosed?

A diagnosis of osteopetrosis is based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests such as x-ray imaging and measurement of bone mass density (BMD) which is increased. Skeletal X-ray findings are very specific and are considered sufficient to make a diagnosis.

Can infantile osteopetrosis be diagnosed in the womb?

Infantile osteopetrosis may also be diagnosed before birth using ultrasound as early as 14 weeks' gestation. However, it is possible to have a normal ultrasound and still have a baby with infantile osteopetrosis. The thigh bones in the right X-ray show the effects of infantile osteopetrosis.