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Osteogenesis imperfecta (IPA: / ... Although there is no cure, [10] most cases of OI do not have a major effect on life expectancy, [1]: 461 ...
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).
The clinical features of COL1A1/2-related osteogenesis imperfecta can be highly variable ranging from severe and lethal perinatal fractures to individuals with minimal tendency to repeated fractures and skeletal deformities and with a normal stature and life span.
Small cell lung cancer has a five-year survival rate of 4% according to Cancer Centers of America's Website. [5] The American Cancer Society reports 5-year relative survival rates of over 70% for women with stage 0-III breast cancer with a 5-year relative survival rate close to 100% for women with stage 0 or stage I breast cancer.
The Office star Jenna Fischer revealed on Tuesday that she was diagnosed with triple-positive breast cancer at the end of last year but is now cancer-free. ... Life expectancy may be plateauing.
Note: Prenatal ultra-sound images of the ribs sometimes appear asymmetrical when in fact they are not. In certain cases, this has caused a misdiagnosis of osteogenesis imperfecta (OI) type II. [citation needed] An unusual head shape called kleeblattschaedel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia. [5]
Osteogenesis imperfecta: COL1A1, COL1A2, IFITM5: dominant 1:15,000-20,000 Ostravik-Lindemann-Solberg syndrome: 2p15 autosomal recessive [31] Pantothenate kinase-associated neurodegeneration: PANK2 (20p13–p12.3) recessive 1-3:1,000,000 Patau syndrome (Trisomy 13) 13: trisomy PCC deficiency (propionic acidemia) PC: recessive 1:250,000 Porphyria ...
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 ...