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Sometimes despite healthy living, some of us may develop diseases that are associated with imperfections in our genes. Such is the case for brittle bone disease.
What is Brittle Bone Disease
Brittle Bone disease also known as osteogenesis imperfecta or OI which means “imperfectly formed bone” is a disorder that results in fragile bones that break easily. It’s typically present at birth, but it only develops in children who have a family history of the disease.
The earliest known case of osteogenesis imperfecta (OI) is in a partially mummified infant’s skeleton from ancient Egypt now housed at the British Museum in London. In 1835, Lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition.
A Viking leader who lived in the 9th century, Ivar Ragnarsson “Ivar the Boneless,” probably had OI. He is reported to have been a very wise leader and a very fierce warrior who had to be carried into battle on a shield because his legs were so soft.
Early in the 20th century OI was identified as a condition people were born with rather than an illness they acquired later. Today, people who have OI come from all walks of life.
No single test can identify osteogenesis imperfecta. To diagnose OI, doctors look at:
- Family history
- Medical history
- Results from a physical exam
- X rays.
Your doctor may also test your collagen (from skin) or genes (from blood). It may take a few weeks to learn the results of the tests. These tests spot OI in 9 out of 10 people who have it.
All people with osteogenesis imperfecta have brittle bones. OI can range from mild to severe and symptoms vary from person to person. These people may have the following:
- Malformed bones
- Brittle teeth
- Loose joints
- Short, small body
- Triangular face
- Weak muscles
- Breathing difficulties
- Hearing loss (often starting in 20s or 30s)
- Sclera (whites of the eyes) that look blue, purple, or gray
- Curved spine
- Barrel-shaped rib cage
- Type 1 collagen that does not work well
- Collagen deficiency