Sindrome de osteogenesis imperfecta pdf

Osteogenesis imperfecta oi is a group of genetic disorders that mainly. Oi are caused by mutations in two genes that code the 1 type collagen chain col1a1, which is located on chromosome 17, and the col1a2, located on. Osteogenesis imperfecta oi type ii is within the group of connective tissue disorders hereditary geneticorigin. Las osteogenesis imperfectas revision del tema scielo. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. Lobsteins syndrome, porak and durante disease, brittle bone disease, osteopsathyrosis definition. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Osteogenesis imperfecta oi is a group of hereditary genetic conditions of the connective tissue characterized by brittle bones and fractures.

Danlos syndrome in the same patient does not seem to have been reported before. In the discussion following j ohnson and f alls paper on ehlers. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Danlos syndrome, blue sclerae and osteoporosis, but without fractures. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Diagnostico y tratamiento del paciente con osteogenesis imperfecta. Whereas the initial ct scan showed bandlike, undermineralized pericochlear areas, 2 years later, repeat ct performed because of hearing deterioration showed progression of these findings to the promontory.

Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures bruck syndrome. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. The osteogenesis imperfecta or the disease of fragile bones is a hereditary pathology in which exist an abnormal qualitative and quantitative production. Cochlear implantation in a child with osteogenesis imperfect j pediatr otorhinolaryngol. We report the progressive otic capsule demineralization around the membranous labyrinth and facial nerve in an adult patient with osteogenesis imperfecta tarda. The combination of osteogenesis imperfecta and the ehlers. Multiple fractures are common, and in severe cases, can even occur before birth.