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Doctor insights on: Which Organ Systems Are Affected By Osteogenesis Imperfecta

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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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Dr. Thomas Inwood
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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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 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

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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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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