Osteogenesis Imperfecta Research Paper

724 Words3 Pages
Osteogenesis imperfecta is a genetic, typically autosomal dominant, disease affecting the amount and/or quality of type I collagen produced which results in fragile bones leading to increased fractures. Type I collagen is found in the bones, skin, and in the connective tissue of many organs, blood vessels, and the gastrointestinal tract. There are four subtypes of Osteogenesis imperfecta—Type I, Type II, Type III & Type VI—with a wide range of symptoms and a great deal of overlap. The subtypes are divided by severity of symptoms and the quality vs the quantity of type I collagen produced. The most important clinical symptoms from this disease are increase in amount of fractures, loss of hearing, and short statures due to the deformities of bones caused the disease. Type I Osteogenesis imperfecta is the most mild form of the disease in which there is a reduction in the amount of type I collagen produced. Individuals with this classification suffer from increased risks of fractures in early childhood which tends to resolve or decrease in likelihood after they reach puberty. Additionally, these individuals also have a mild decrease in average height, early loss of hearing, and blue scleras. Type II…show more content…
In this type the individual has a defect in the quality of type I collagen with little or no change in the quantity produced. Type VI is a slightly more sever form when compared to Type I, however, it is considered mild when compared to Type II and Type III. It shares a lot of similarities to Type I osteogenesis imperfects as the disease tends to reveal itself during earl childhood—these individuals also tend to suffer from more fractures and much shorter height than the Type I individuals. Type VI is also associated with early loss of hearing but of note the sclera of these individuals is either normal or gray in appearance, not blue as the above three
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  • Osteogenesis Imperfecta Research Paper

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    Osteogenesis Imperfecta (OI) is a rare congenital disorder of the connective tissue caused by the mutation of type 1 collagen genes COL1A1, COL1A2, CRTAP, and P3H1. People born with defective connective tissue or without the ability to make it, suffer from bone fragility or what is otherwise known as brittle bone disease. “Fractures may be rare or frequent (more than 200 prior to puberty) and bone fragility may be accompanied with reduced life span and various connective tissue abnormalities.”

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