Osteogenesis Imperfecta | Diagnosis & Treatment

How is osteogenesis imperfecta diagnosed?

The first step to treating your child’s osteogenesis imperfecta (OI) 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

What are the treatment options for osteogenesis imperfecta?

To date, there's no known treatment, medicine or surgery that can cure osteogenesis imperfecta, but treatment for the condition aims to:

  • correct and prevent fractures and deformities
  • allow your child to function as well and as independently as possible

Treatments for preventing or correcting symptoms may include the following:

  • surgery to manage recurring fractures, bowing of the bone, scoliosis
  • surgery to maintain your child's ability to sit or stand
  • rodding (minimally-invasive procedure to insert a simple or telescopic metal rod (Fassier Duval rod) the length of a long bone to stabilize it and prevent deformity)
  • assistive devices, such as wheelchairs, braces and other custom equipment
  • dental procedures
  • physical therapy
  • medications (for pain and for bone strength)
  • psychological counseling

What is the long-term outlook for children with osteogenesis imperfecta?

Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a child's quality of life and ability to function. The condition presents complex challenges on anatomical, medical and socio-psychological levels.

Nevertheless, children with OI can grow up to lead full, productive lives.