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Doctor insights on: Is Osteogenesis Imperfecta A Form Of Dwarfism

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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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Dr. William Singer
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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Is osteogenesis imperfecta a type of the disease dwafism?

Is osteogenesis imperfecta a type of the disease dwafism?

No: Osteogenesis imperfecta deals with fragile bones and increase risk of fractures easily. Now with these fractures children's stature can be shorter but it is not a form frust of dwarfism. Various types exist and will manifest as fractures immediate at birth versus those that can occur later in infancy. ...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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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 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

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