Osteogenesis imperfecta

Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. People with OI do not produce enough good quality collagen to produce healthy, strong bones. Collagen is an important protein and without a good enough supply the bones are weak and break very easily.

History and alternative names

The condition, or types of it, have had various other names over the years and in different nations. Among some of the most common alternatives are Ekman-Lobstein Syndrome, Vrolik's Syndrome, and the colloquial glass-bone disease. Since 1901 "OI" has been the more common medical term, but the current four system typology was not used before 1979. Before then the less severe types were often called "Osteogenesis Imperfecta Tarda" while more severe forms were deemed "Osteogenesis Imperfecta Congenita." As this did not differentiate well, and all forms are congenital, this has since fallen out of favour.

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1901 - 1979

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The condition has been found in an Ancient Egyptian mummy from 1000 BC. In these earlier eras OI was sometimes deemed to be caused by maternal impression. The French philosopher Nicolas Malebranche (1638-1715) recorded a mother who gave birth to a child with broken bones. This was widely blamed on her seeing the execution of a criminal on the breaking wheelhttp://teratology.org/jfs/History.html#MaternalImpression. The earliest studies of it began in 1788 with the Swede Olof Jakob Ekman. He described the condition in his doctoral thesis and mentioned cases of it going back to 1678. In 1831 Edmund Axmann described it in himself and two brothers. Johann Friedrich Georg Christian Martin Lobstein dealt with it in adults in 1833. Willem Vrolik did work on the condition in the 1850s. The idea that the adult and newborn forms were the same came in 1897 with Martin Benno Schmidt.

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Ancient Egypt - Mummy - 1000 BC - Maternal impression - Nicolas Malebranche - 1638 - 1715 - Breaking wheel - 1788 - 1678 - 1831 - 1833 - 1897

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Frequency is approximately the same across groups, but for unknown reasons the Shona and Ndebele of Zimbabwe seem to have a higher proportion of Type III to Type I then other groups would.http://fenice.tigem.it/srs6bin/cgi-bin/wgetz?-id+4xSuY1LlhLN+%5Bomim-ID:259420%5D+-e. Although a similar pattern was found in segments of the Nigerian and South African population. In these varied cases the total number of OIs of all four types was roughly the same as any other ethnicity.

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Shona - Ndebele - Zimbabwe - Nigeria - South Africa

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