What Is Osteogenesis Imperfecta?
Reviewed: Dr. Mera
7. Diagnosis After Birth
Although severe cases of OI may cause fractures before birth, patients with mild OI may not be diagnosed until years later when a fracture occurs following a slight or nonexistent trauma. Patient age at diagnosis can vary widely. The evaluation includes a detailed patient and family history, identification of symptoms, and specialized tests.
X-rays can be used to see past and present bone breaks or defects. Blood tests and genetic testing for the OI mutation is sometimes useful. A biopsy of the skin may detect collagen abnormalities. Arriving at a diagnosis is sometimes made by ruling out other conditions through blood and urine tests.
