Diagnosis is based on clinical features, family history, radiologic findings, and genetic testing. Key indicators include recurrent fractures, blue sclerae, short stature, and hearing loss. Bone density tests, skin biopsy to assess collagen, and DNA testing can help confirm the diagnosis. In newborns and infants, OI may be mistaken for other conditions like child abuse, making genetic confirmation crucial.
There is no cure for OI, but treatments aim to manage symptoms, prevent fractures, and improve quality of life. Bisphosphonates are commonly used to increase bone density. Physical therapy, orthopedic interventions (e.g., rodding surgeries), and hearing aids may also be necessary. In severe cases, rehabilitation and mobility support are essential. New therapies, including gene and stem cell treatments, are under investigation. A multidisciplinary approach involving orthopedic surgeons, endocrinologists, physical therapists, and genetic counselors is critical for optimal care.