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Osteogenesis imperfecta is a group of genetic disorders, all of which cause bone fragility. OI has high genetic heterogeneity , that is, many different genetic mutations lead to the same or similar sets of observable symptoms ( phenotypes ).
These alterations negatively affect tissues that are rich in type I collagen, such as the skin, bones, teeth, and tendons, leading to the signs and symptoms of type III osteogenesis imperfecta. Osteogenesis imperfecta, type IV : Several different types of mutations in the COL1A1 gene cause osteogenesis imperfecta type IV.
Osteogenesis Imperfecta (types 1–4): Mutations in COL1alpha 1 and/or COL1alpha2 are known to cause several different types of Osteogenesis Imperfecta with the severity of said diseases being related to the type and frequency of the mutations occurring. [9] For further information on COL1's effect in this disease, see Collagen, type 1, alpha 1.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
In classic non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss.
Bone disease refers to the medical conditions which affect the bone. [1] Terminology ... Osteogenesis imperfecta [18] Osteomalacia [19] Osteomyelitis [20] Osteopenia [21]
A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. [3]
These include osteogenesis imperfecta, [63] Multicentric carpotarsal osteolysis syndrome, [69] Multicentric Osteolysis, Nodulosis, and Arthropathy, [70] Marfan syndrome, [63] hemochromatosis, [4] hypophosphatasia [71] (for which it is often misdiagnosed), [72] glycogen storage diseases, homocystinuria, [63] Ehlers–Danlos syndrome, [63 ...