Osteogenesis imperfecta

If your child has been diagnosed with osteogenesis imperfecta (OI), you’ll have concerns and questions about her health, treatment, recovery and other issues. It may comfort you to know that Children’s Hospital Boston is a world leader in pediatric orthopedics, and we have a wealth of experience helping children with this condition. We specialize in innovative, family-centered care to support your child and family every step of the way.

About osteogenesis imperfecta
Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic and inherited disorder characterized by fragile bones that break easily without a specific cause.

• OI is caused by a genetic defect affecting the non-mineral part of bone. About 85 percent of defects are in collagen, the triple helix connective tissue rope that holds the mineral parts of bones together. Other more rare forms of OI affect other proteins in bone.
• OI is a lifelong condition that varies greatly in severity, affecting bone quality and bone mass.
  • The condition can also affect a child’s stature, hearing, skin, blood vessels, muscle mass (hypotonia, or poor muscle tone) and teeth (dentinogenesis imperfecta).
• The most common form of OI (Type I) is the least severe. (See In-Depth for the four major types and their symptoms.)
• The disorder occurs in an estimated one out of 12,000 to 15,000 babies, and equally affects boys and girls of all races and ethnicities.
• The condition is most often diagnosed by:
  • x-rays
  • history of frequent fractures with minimal trauma
  • genetic testing of a blood sample (DNA blood test)
  • bone density scan (DXA)
• Surgery may be needed to manage:
  • recurring fractures
  • bowing of the bone
  • scoliosis (sideways curvature of the spine)
• Orthopedists can often reinforce fragile leg bones using minimally-invasive telescopic Fassier Duval rods.

How Boston Children's Hospital approaches osteogenesis imperfecta
Doctors at Children's work together in multidisciplinary care teams to give your child the individualized attention she needs. Depending on the severity of your child’s OI, her care team could include orthopedic, genetic and endocrinology specialists—as well as dentists, audiologists, physical and occupational therapists and pulmonologists.

Whatever treatment your child requires, you can have peace of mind knowing that, as a national and international orthopedics center, our Orthopedic Center has vast experience treating children with OI. As a result, we provide expert diagnosis, treatment and care for children with every type and manifestation of the condition.

One of the first programs. Our Orthopedic Center is one of the world’s first comprehensive pediatric orthopedic programs, and is now the largest pediatric orthopedic surgery center in the United States, performing more 5,000 procedures each year. Our program, consistently ranked among the highest in the country by U.S.News & World Report, is the nation’s preeminent care center for children and young adults with developmental, congenital, post-traumatic and neuromuscular problems of the musculoskeletal system.

Osteogenesis imperfecta: Reviewed by Samantha Spencer, MD

© Children’s Hospital Boston, 2011