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Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.
In classic non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss.
The genetics of Bruck syndrome differs from osteogenesis imperfecta. Osteogenesis imperfecta usually involves autosomal dominant mutations to COL1A1 or COL1A2 which encode type 1 procollagen. [ 6 ] Bruck syndrome is linked to mutations in two genes, and therefore is divided in two types.
The Brittle Bone Society was established in 1968 in Dundee by Margaret Grant, who has OI. When she was young, Grant was aware that there was virtually no support for people with OI and that many medical professionals knew little or nothing about the condition. When her daughter Yvonne was born some years later, very little had changed.
It was first discovered in 1972 by Bianchine et al. when they described three families with osteogenesis imperfecta, pseudoglioma, retinoblastoma, and recurrence of bone fractures. [ 8 ] References
When Stephenson was born, doctors quickly recognized the signs of the genetic mutation osteogenesis imperfecta, commonly known as "brittle bone disease". Most of his bones had been broken during the delivery. He was placed in intensive care at Chicago Children's Hospital, and doctors warned his parents that he might die very soon. [1]
Some professional guidelines recommend prophylaxis in patients who take the equivalent of more than 30 mg hydrocortisone (7.5 mg of prednisolone), especially when this is in excess of three months. [75] It is recommended to use calcium or Vitamin D as prevention. [76] Alternate day use may not prevent this complication. [77]
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