Testing & Diagnosis for Osteogenesis Imperfecta in Children

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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.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944