Testing & Diagnosis for Osteogenesis Imperfecta in Children

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Contact the Orthopedic Center

  • 617-355-6021
  • International: +1-617-355-5209
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At Boston Children's Hospital, 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.

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337