eMedicine - Osteogenesis Imperfecta : Article by Horacio B Plotkin, MD Osteogenesis Imperfecta - Osteogenesis imperfecta (OI) is disorder with congenital bone fragility, caused by mutations in the genes that codify for type I procollagen ( COL1A1 and COL1A2).At least 4 types of OI are described: Type I mild forms, type II extremely severe; type III severe; osteogenesis imperfecta,osteogenesis imperfecta,oi,fragile bone disease,brittle bones,brittle bone disease,broken bones,osteoporosis,bone fragility,syndromes resembling osteogenesis imperfecta, |
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Osteogenesis Imperfecta-Bone Diseases and Disorders Overview of osteogenesis imperfecta bone disorders, bone disorder, bone disease,osteogenesis imperfecta, brittle-bone disease, broken bones, genetic defect, collagen, oi, diagnosis, treatment, symptoms, type i, type ii, type iii, |
eMedicine - Ehlers-Danlos Syndrome : Article by Enrico Ceccolini, MD Ehlers-Danlos Syndrome - Ehlers-Danlos syndrome (EDS) is the name given to a group of more than 10 different inherited disorders; all involve a genetic defect in collagen and connective-tissue synthesis and structure.EDS can affect the skin, joints, and blood vessels. This syndrome is clinically het ehlers-danlos syndrome, eds, tenascin-x deficiency syndrome, lysyl hydroxylase deficiency syndrome, inherited connective tissue disorders, inherited connective-tissue disorders, |