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Getting tested for brittle bone disease?

1 doctor weighed in

In brief: Should be done

Osteogenesis imperfecta is an abnormality in collagen 1 function, and so you are not able to make bones or other connective tissue structures correctly.
This is why people often have "blue sclera" because the collagen is abnormal. Most cases are genetic, but a new mutation (not inherited) can be seen (about 35%). There are 8 major types, and these can be tested for.

In brief: Should be done

Osteogenesis imperfecta is an abnormality in collagen 1 function, and so you are not able to make bones or other connective tissue structures correctly.
This is why people often have "blue sclera" because the collagen is abnormal. Most cases are genetic, but a new mutation (not inherited) can be seen (about 35%). There are 8 major types, and these can be tested for.
Dr. Lester Thompson
Dr. Lester Thompson
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