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Osteogenesis Imperfecta (OI)

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Introduction:
Osteogenesis imperfecta (OI), also known as “brittle bone disease” is an infantile congenital disease caused by defects in Type 1 collagen biosynthesis. Unfortunately, infants with osteogenesis imperfecta have a poor prognosis because their bones are unable to mature properly. According to the national human genome research institute, osteogenesis imperfecta can vary from infant to infant. Furthermore, the national human genome states that OI occurs in “approximately 1 in 20,000 individuals.” (National human genome). Interestingly the national human genome also states that this disease occurs equally in females and males, but more commonly found in infants with an African American ethnic background.
Types of OI
The pathogenesis …show more content…
This is the mildest type where infants have a fighting chance to survive. Infants with type 1 osteogenesis imperfecta have mild fractures throughout their lifespan.
Type 2 Osteogenesis imperfecta is the most severe type. These infants have very malformed bones. Due to the lack of collagen, infants with type 2 OI also have an underdeveloped chest with fractured ribs which in turn leads to underdeveloped lungs. Therefore, the main cause of death for infants with Type 2 osteogenesis imperfecta is usually caused by cardiac or respiratory …show more content…
This type of imperfecta ranges on a wide scale. In most cases however, Type 4 OI is not diagnosed until childhood. One thing to distinguish Type 4 OI from Type 1 OI is that infants with type 4 OI have moderate to severe growth retardation; the infant may be a lot smaller than average for their age. (Osteogenesis imperfecta foundation) Another interesting thing to note about type 4 OI is the fact that this type is an “autosomal dominant pattern of inheritance.” This type of OI does not include incompetent collagen, in many cases “the result is of a new mutation.” (Osteogenesis imperfecta

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