Osteogenesis imperfecta
Disease Information
Tests
At Children’s Hospital Boston, we know that the first step to treating your child’s osteogenesis imperfecta is to form a timely, complete and accurate diagnosis.
OI is usually diagnosed in infancy or early childhood. To diagnose your child’s OI, the doctor conducts a physical exam. During the exam, the doctor takes your child’s complete prenatal, birth and family medical history.
Tools for diagnosing osteogenesis imperfecta can include:
- a complete medical history and physical exam (including ear, nose and throat exam to detect hearing loss*)
- x-rays
- DNA blood test
- DXA bone density scan
*Note: hearing loss, if any, usually occurs in young adulthood, not childhood.
| Our Orthopedic Clinical Effectiveness Research Center (CERC) |
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Children’s Orthopedic Clinical Effectiveness Research Center (CERC) was established by the Orthopedic Center to improve the quality of life for children with musculoskeletal disorders. This collaborative clinical research program is unique in the nation and is playing an instrumental role in establishing, for the first time, evidence-based standards of care for pediatric orthopedic patients throughout the world. |
| If you come from far away, we can help |
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As an international pediatric orthopedics center, Children’s cares for young patients from all over the world. Our International Center assists families residing outside the United States: facilitating the medical review of patient records; coordinating appointment scheduling; and helping families with customs and immigration, transportation, hotel and housing accommodations. |
