Osteogenesis Imperfecta ( Oi ) Is An Inherited Disorder Characterized By Extreme Fragility Of The Bones

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Science Biology Transcript Osteogenesis Imperfecta (OI) Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’. Clinical Features The symptoms of OI include malformed bones, short, small body, loose joints, muscle weakness, sclera (whites of the eyes) look purple, grey or blue, triangular face, barrel-shaped rib cage, curved spine, brittle teeth, breathing problems and a collagen deficiency. Classification There are many ways to classify OI. The most accurate methods are the following. In some cases, an ultrasound can identify bone abnormalities at 14-18 weeks. Cells obtained through chorionic villus sampling or amniocentesis can also be analysed for a genetic mutation. Amount of collagen can be tested through a skin sample and genes can be tested through a blood sample and X-rays to check for bone abnormalities such as the symptoms explained earlier can be used to diagnose. Radiographic Features The hallmark feature of Osteogenesis Imperfecta is fragile bones that fracture easily. Osteogenesis Imperfecta affects both bone quality and quantity (i.e. bone mass). History We do not know for certain about when OI started. Perhaps when sin entered the world but we do know that it has been around for a long time as you can see in these pictures. http://link.springer.com/article/10.1007/s00381-009-0817-7/fulltext.html These are pictures of a 3000 year old mummy that has OI. This proves

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