Osteogenesis Imperfecta

Summarized by Plex Health
Last Updated: 02 May 2022
medpix case - osteogenesis imperfecta type ii "medpix case - osteogenesis imperfecta type ii", by Original Source: Tiffany Stratton; Author: Tiffany Stratton (Uniformed Services University); Approved By: Eric A Walker (Penn State University);. diffuse osteopenia, multiple fractures, bowing of extremities, compression fractures of spine...

Osteogenesis imperfecta is a hereditary disorder characterized by bones that break conveniently, commonly from little or no evident cause. A classification system of various types of OI is commonly used to assist describe how significantly an individual with OI is affected. In leading OI, a person has either inadequate type 1 collagen or a low quality of type 1 collagen triggered by a mutation in among the type 1 collagen genes. Both the collagen biopsy test and the DNA test are thought to identify nearly 90 percent of all type 1 collagen mutations. When a type 1 collagen mutation is not found, other DNA tests can look for recessive forms. There go to at least 19 acknowledged forms of osteogenesis imperfecta, marked type I with type XIX. Type I is the mildest form of osteogenesis imperfecta. People with mild forms of the condition usually have a grey or blue color to the part of the eye that is usually white, and about fifty percent develop hearing loss in the adult years. Unlike more badly affected individuals, people with type I are usually of normal or near normal elevation. Other types of osteogenesis imperfecta are more severe, triggering constant bone cracks that are present at birth and arise from little or no injury. OI is also called "fragile bone disease. " Along with having cracks, people with OI also have teeth issues, and hearing loss when they are adults. People who have OI may additionally have muscular tissue weak point, skeletal malformations and loosened joints. OI type VII is caused by recessive mutations in the CRTAP genetics.

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