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Doctor insights on: Osteogenesis Imperfecta Genereviews

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How is osteogenesis imperfecta inheritanced?

How is osteogenesis imperfecta inheritanced?

Autosomal dominant: Osteogenesis impecta (OI) is transmitted in autosomal dominant fashion. Rare cases of OI, type II B &and type II C, are transmitted in autosomal recessive inheritance. ...Read more

Dr. Hirenkumar Italia
99 doctors shared insights

Osteogenesis Imperfecta (Definition)

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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I have oi (osteogenasis imperfecta) does osteogenesis mean passed through genes?

I have oi (osteogenasis imperfecta) does osteogenesis mean passed through genes?

Osteo=bone: Genesis=building, imperfecta=imperfect This is a family of several disorders that result in the brittle bone disease. Most are passed by defective recessive genes that are carried by two unaffected parents, that pass a pair of erroneous genes to the baby. If that person had babies, all would be unaffected carriers (only one) of the gene. ...Read more

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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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What type of inheritance for osteogenesis imperfecta?

What type of inheritance for osteogenesis imperfecta?

Autosomal dominant: Which means one copy of the altered gene in each cell is sufficient to cause the condition. And less comnnly autosomal recessive type of inhertance which means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. ...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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What is osteogenesis imperfecta?

Genetic disease: This is a disease of type 1 collagen. It is inherited and comes in several forms. Some of these forms cause the white part of the eye to look blue. These disorders also cause fragile or brittle bones. The different types show up at different ages and have different severity. ...Read more

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What is osteogenesis imperfecta?

What is osteogenesis imperfecta?

When : the bone is developing, the architecture is not sound, or has weakness. ...Read more

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What is Osteogenesis Imperfecta?

Osteogenesis: This is a rare inherited disorder characterized by several features including but not limited to blue sclera and pathologic fractures. ...Read more

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Is osteogenesis imperfecta a form of dwarfism?

Yes : In it's more severe stated there is retardation of growth therefore dwarfism would be seen. ...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 osteogenesis imperfecta a chronic disease?

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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Is osteogenesis imperfecta considered a chromosomal abnormality?

Is osteogenesis imperfecta considered a chromosomal abnormality?

No - a mutation.: Osteogenesis imperfecta is a genetic anomaly that in 90% of cases is due to a mutation in the col1a1, col1a2 genes of type i collagen. It is not a chromosomal anomaly. ...Read more

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Is osteogenesis imperfecta a bone disease and disorder?

Is osteogenesis imperfecta a bone disease and disorder?

Yes: Osteogenesis imperfecta, or oi for short, is caused by genetic mutations of certain collagen genes. There are a number of types, and the severity can range from lethal shortly after birth to quite mild. Bone fractures, sometimes dental problems, and sometimes hearing loss can occur. The oi foundation is a great source of information: http://www.Oif.Org/site/pageserver. ...Read more

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What is the inheritance pattern for osteogenesis imperfecta?

What is the  inheritance pattern for osteogenesis imperfecta?

Autosomal dominant.: Autosomal dominant mutations in col1a1/col1a2 genes account for 90% of osteogenesis imperfecta cases. ...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 dentinogenesis imperfecta permanent?

Is dentinogenesis imperfecta permanent?

Yes, but: Yes, but see a dentist for recommended treatment options to restore teeth to the healthiest state possible. ...Read more

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Dr. Linda DiMeglio
73 doctors shared insights

Brittle Bone Disease (Definition)

Typical brittle bone disease is due to loss of mineralization of normal bone and can be diagnosed by regular x-rays. It is uncommon in men , in which case other diseases and conditions may be suspected, such as malabsorption, or other systemic disease. In women, it ...Read more