The Osteogenesis imperfecta (OI) is an inherited connective tissue disorder that causes a diffuse pathological bone fragility. Often it is from hearing loss, accompanied blue sclera, dentinogenesis imperfecta and a hypermobility of the joints.
There are four main types of OI. Type I and IV are autosomal dominant trait, while type II and III are autosomal recessive. Ninety percent of those who one of the most important types have mutations in the genes, the pro-alpha chains of type I procollagen encoding COL1A1 or COL1A2. Other types are rare and are caused by mutations in different genes.
The Osteogenesis imperfecta (OI) is an inherited connective tissue disorder that causes a diffuse pathological bone fragility. Often it is from hearing loss, accompanied blue sclera, dentinogenesis imperfecta and a hypermobility of the joints. There are four main types of OI. Type I and IV are autosomal dominant trait, while type II and III are autosomal recessive. Ninety percent of those who one of the most important types have mutations in the genes, the pro-alpha chains of type I procollagen encoding COL1A1 or COL1A2. Other types are rare and are caused by mutations in different genes. Symptoms and complaints hearing loss is present in 50-65% of patients with OI and can occur in all four types. Osteogenesis imperfecta ( “Blue sclerae) JAMES STEVENSON / SCIENCE PHOTO LIBRARY var model = {thumbnailUrl: ‘/-/media/manual/professional/images/m2300003-osteogenesis-imperfecta-science-photo-library-high_de.jpg?la=de&thn = 0 & mw = 350 ‘, imageUrl’ /-/media/manual/professional/images/m2300003-osteogenesis-imperfecta-science-photo-library-high_de.jpg?la=de&thn=0 ‘, title: “Osteogenesis imperfecta ( “Blue sclerae) ‘description:’ u003Ca id = ” v37897659 “”class = “” anchor “” u003e u003c / a u003e u003cdiv class = “” para “” u003e u003cp u003eNahaufnahme the eye