Osteogenesis Imperfecta & Its Types | Pathology

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Osteogenesis Imperfecta & Its Types | Pathology

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What Is Osteogenesis Imperfecta?
Osteogenesis imperfecta (OI) is a genetic disorder that prevents the body from building strong bones. That’s why it’s also called brittle bone disease.
There are different types of OI, and the problems it causes vary. Some people have mild symptoms, like bones that break a little easier than normal. Others can have serious problems. Treatments can help people with osteogenesis imperfecta reach their full potential.

What Causes Osteogenesis Imperfecta?
Osteogenesis imperfecta (os-tee-oh-JEN-uh-sis im-pur-FEK-tuh) happens because of a mutation (change) in the gene that makes the protein collagen. Collagen is an important building block of bones.

Children may inherit the mutation from a parent. Sometimes, though, it is not inherited and neither parent has osteogenesis imperfecta. Instead, the change happens early in pregnancy when the baby is first forming.

People who have brittle bone disease are born with it. They either don't have enough collagen in their bones or the collagen doesn't work as it should. This makes their bones weaker and more brittle than normal bones. It also can lead to abnormally shaped bones.

What Are the Signs & Symptoms of Osteogenesis Imperfecta (OI)?
Symptoms of the condition vary from person to person. Even people from the same family, or with the same type of OI, can have different symptoms.

The most common types of osteogenesis imperfecta and their usual symptoms are:

Type I: This is the mildest and most common type of brittle bone disease. The collagen is normal, but there isn’t enough of it. People with type I have bones that break more easily, but their bones are usually shaped normally. The first bone break usually happens when the child starts walking. Fractures usually happen less often after puberty. The whites of the eyes (sclera) can have a blueish tint. They may also have hearing loss as adults.

Type II: This is the most severe type. The collagen is not formed normally. Babies with type II are usually born with many fractures, are very small, and have severe breathing problems. As a result, most do not survive.

Type III: In this type, collagen doesn’t form normally, and babies often have broken bones at birth. As kids get older, their bones can break easily, and they’re usually shorter than other kids their age. They may have abnormally shaped bones (such as a curved spine, a ribcage that points outward, a triangular face, or legs that bow out), breathing problems (which can be life-threatening), hearing loss as adults, brittle teeth, and other problems. The whites of their eyes can have a blueish tint.

Type IV: Collagen also doesn’t form normally in type IV. Kids usually have frequent bone breaks (which may happen less often after puberty) and abnormally shaped bones (similar to type III). They’re shorter than other kids their age and may have hearing loss as an adult.
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