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Doctor insights on: Can Osteogenesis Imperfecta Be Detected Prior To Birth

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Can osteogenesis imperfecta be detected prior to birth?

Can osteogenesis imperfecta be detected prior to birth?

Sometimes: It depends on the type of oi. If a parent has oi, and the genetic mutation they carry has been identified, the fetal dna can be checked for the same mutation. This is done through amniocentesis and chorionic villus sampling. Sometimes fetal ultrasound can show changes of oi in severe cases. ...Read more

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Dr. Mark Ingerman
95 doctors shared insights

Osteogenesis Imperfecta (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


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Can you tell me about osteogenesis imperfecta?

Can you tell me about osteogenesis imperfecta?

Genetic disease: For excellent general info go the NIH website here: http://ghr.Nlm.Nih.Gov/condition/osteogenesis-imperfecta. ...Read more

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What organ systems can be affected by osteogenesis imperfecta?

What organ systems can be affected by osteogenesis imperfecta?

Bones teeth eyes: Brittle bones poor dentition and blue sclerae (whites of the eyes) are common features of oi. ...Read more

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What to do if I have type 1 osteogenesis imperfecta? What is this?

What to do if I have type 1 osteogenesis imperfecta? What is this?

Sounds like you may: not have it. It is a collagen disorder which causes "brittle bones". The diagnosis is made by a very difficult collagen analysis which takes about 2 months, usually at Dr. Peter Buyer's lab at the U.of Washington. It may be passed from generation to generation. Characterized by multiple fractures from trivial forces. Very variable--one sib may have 20 fractures, and another may have none. ...Read more

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Please help! what is the mode of inheritance for osteogenesis imperfecta?

OI mostly dominant: There are many types of osteogenesis imperfecta. Most are inherited in an autosomal dominant pattern (=one copy of the altered gene sufficient to cause condition). Some inherit it from a parent, others arise spontaneously (sporadic, de novo) in a child. Some types of oi are inherited in autosomal recessive manner which means that each parent is a carrier but does not have symptoms. ...Read more

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Can osteogenesis imperfecta be curable?

Can osteogenesis imperfecta be curable?

No: osteogenesis imperfecta is not curable. There five types and they vary is severity. They can be treated with medication and allow patient to live with the disease. ...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

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Is osteogenesis imperfecta a curable disease?

Is osteogenesis imperfecta a curable disease?

No: It is an inherited connective tissue disease that produces "brittle bones" that results in non-traumatic fractures. It ranges from mild to lethal. There is no cure. Genetic counseling is indicated for the families. ...Read more

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Is osteogenesis imperfecta a chronic disease?

Yes: It exists from conception until death, so it qualifies as chronic.Some are symptomatic at birth and some not until much older. ...Read more

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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