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Doctor insights on: Osteogenesis Imperfecta

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Osteogenesis Imperfecta (Overview)

Osteogenesis imperfecta is a condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.


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What is the medical definition of osteogenesis imperfecta?

What is the medical definition of osteogenesis imperfecta?

See below: Osteogenesis imperfecta (oi) is a congenital disease that is present at birth. It is commonly caused by genetic defect in type 1 collagen, a building block of bone. There are various defects that can affect this gene. The severity of OI depends on the specific defect in the gene. OI is an autosomal dominant disease. ...Read more

Osteogenesis Imperfecta (Overview)

Osteogenesis imperfecta is a condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.


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Does a karyotype show osteogenesis imperfecta?

Does a karyotype show osteogenesis imperfecta?

No: A karyotype is useful for detecting chromosomal abnormalities where the number of actual chromosomes is abnormal (e.g., down syndrome or turner syndrome) or a large defect in a chromosome (like a duplication or translocation). Oi is caused by small mutations in a number of possible genes. There are some prenatal tests available for oi. ...Read more

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I'm 32 and was diagnosed with osteogenesis imperfecta, can you help me?

I'm 32 and was diagnosed with osteogenesis imperfecta, can you help me?

Genetic disease: For excellent general info go to the NIH website here: http://ghr.Nlm.Nih.Gov/condition/osteogenesis-imperfecta. There is accurate reliable information about diagnosis, treatment, and clinical trials (if interested). Also links to other sources of information are reliable. ...Read more

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How long does it take to get the results of a genes test for osteogenesis imperfecta?

How long does it take to get the results of a genes test for osteogenesis imperfecta?

Up to a month: The test usually involves a skin biopsy and usually must be sent to a special lab. The results take several weeks to come back generally. ...Read more

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Can you have osteogenesis imperfecta and serve in the military?

Can you have osteogenesis imperfecta and serve in the military?

Depends: This probably depends on the level and severity of OI. I do not truly know the answer to this, but my guess is probably for even type one OI the mildest form, this would probably preclude military service. ...Read more

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What causes the blue sclera in osteogenesis imperfecta oi?

What causes the blue sclera in osteogenesis imperfecta oi?

Thin sclera: Osteogenesis imperfecta amongst its other problems, produces a thinning of the white outer coat of the eyeball, the sclera. Because of this the dark inner lining, the uvea, adds its coloration to light striking the thinned sclera and the result is a blue color. The condition does not actually infuse the sclera with blue - it is an optical effect. ...Read more

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If I have osteogenesis imperfecta type 1 does that mean if I have a baby and it is born with oi also will it have type 1 like me?

If I have osteogenesis imperfecta type 1 does that mean if I have a baby and it is born with oi also will it have type 1 like me?

About 50% chance: Most cases of oi are thought to be transmitted via an autosomal dominant mode of transmission. That means if one parent has it, 50% of the kids will have it. To better understand this concept, look up "mendelian genetic transmission" in google. ...Read more

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I currently have a condition called brittle bones osteogenesis imperfecta). What can be done to effectively treat this condition?

I currently have a condition called brittle bones osteogenesis imperfecta). What can be done to effectively treat this condition?

Depends: There are various types of oi, as i imagine you are aware. Some types are worse than others and respond better or worse to treatment. Bisphosphonate medications like alendronate and pamidronate can be used to increase bone mass, in an attempt to stave off fractures. When bones fracture, they can be treated non-operatively or with surgery. ...Read more

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What are treatments for osteogenesis imperfecta?

What are treatments for  osteogenesis imperfecta?

Depends: Primary therapy for brittle bone disease (also known as osteogenesis imperfecta or oi) is physical therapy for fractures with adequate calcium and vitamin d intake. For more severe cases, a class of medicines known as bisphosphonates is used. These medications given intravenously or orally can decrease fracture rates and reduce bone pain. Careful management by an orthopedist, endocrinologist impt. ...Read more

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Is there a cure for osteogenesis imperfecta?

Is there a cure for osteogenesis imperfecta?

A genetic disorder: Osteogenesis imperfecta is a group of disorders that cause bone fragility due to an error in the genetic code for type i collagen. All tissues that are composed of type i collagen are affected. There are many subtypes ranging in severity and associated comorbidities, but all include fragile bones. There is no cure yet. ...Read more

Dr. Linda DiMeglio
70 doctors shared insights

Brittle Bone Disease (Definition)

Osteogenesis imperfecta is a condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on ...Read more