Osteogenesis Imperfecta Diagnosis

How Is Osteogenesis Imperfecta Diagnosed?

In addition to a complete medical history and physical examination, diagnostic procedures for osteogenesis imperfecta may include a skin biopsy to evaluate the amount and structure of collagen. However, this test is complicated and not many qualified facilities are available to perform the procedure. It is not unusual for results of the biopsy to take up to six months.

Additional diagnostic tests may include:

• X-ray
• An examination of the ear, nose, and throat (to detect hearing loss)