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Doctor insights on: Medicine For Osteogenesis Imperfecta

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What is Osteogenesis Imperfecta?

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

Dr. Thomas Fiala
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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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?

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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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

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What to do if I have osteogenesis imperfecta?

You need to be eval-: Uated. If its confirmed, your family might need to be checked for it as well. A geneticist might be able to help if you are planning additions to the family, as oi can be passed to the kids.
Discuss with your pcp. With oi you are prone to deformities from frequent fractures, with minimal force.
Good luck and happy holidays. ...Read more

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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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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 are the types of osteogenesis imperfecta?

What are the types of osteogenesis imperfecta?

Osteogenesis...: There are several types of osteogenesis imperfecta (OI). Type I is the mildest and most common form of the disorder. It accounts for 50 percent of the total OI population.

More information on each type can be found from the OI Foundation website. Http://www. Oif. Org/site/PageServer? Pagename=AOI_Types
Talk with your pediatrician or a geneticist for more specific info. ...Read more

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What happens if I have osteogenesis imperfecta?

Depends: It really depends on what type you have. Here is some information:

http://emedicine. Medscape. Com/article/947588-overview ...Read more

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How many types of osteogenesis imperfecta are there?

There are 8 types: Dominantly Inherited
Type I:Mildest form ~ 50% of total.
Type II:Most severe form. High mortality rate
Type III:Most severe type who survives neonatal period.
Type IV: Moderate-severe growth retardation
Type V: Moderate in severity. Hypertrophic calluses
Type VI:Rare. Similar symptoms to OI Type IV
Resessively inherited Types VII and VIII
Type VII resembles IV and II
Type VIII similar to II, III ...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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What can be done for people with osteogenesis imperfecta?

What can be done for people with osteogenesis imperfecta?

Medical follow up: Medical optimization and surgical stabilization of bones to optimize mobiligy. ...Read more

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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

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Which organ systems are affected by osteogenesis imperfecta?

Which organ systems are affected by osteogenesis imperfecta?

Collagen formation: Oi refers to a group of individual genetic errors, which are associated with a variety of collagen formation. Collagen is the mechanical foundation of body structure. Since the structure of bone depends on the mineralization of a complex called osteoid which is based on collagen, skeletal abnormalities, including deformity and fragility, are one of the most distressing characteristics of oi. ...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 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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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

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