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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.
English: X-ray of a 24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A.
It is not necessarily caused by any disease, but is common in individuals with Osteogenesis Imperfecta. [1] In a broader sense, triangular face encompasses a constellation of a hypoplastic face with prominent zygomatic arches, orbital hypertelorism, sunken cheeks, down-turned mouth, and occasionally brownish facial discolouration. [2]
Not all individuals with OI have dentinogenesis imperfecta, and the prevalence of DI varies depending on the sub-type of OI: Higher prevalence of DI among individuals with OI type III and IV at 43-82% and 37-100%, respectively; Lower prevalence of DI among individuals with OI type I at 8-40%; No data available for other OI sub-types [5] [10]
Popcorn calcification or popcorn appearance is the radiological appearance of calcification with irregular rings and arcs, which resembles popcorns.The calcification patterns in chondroid lesions of the bone (such as enchondroma and chondrosarcoma), [1] pulmonary hamartomas, [2] degenerating fibroadenomas of the breast and calcified fibroids of the uterus have been described as 'popcorn ...
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.
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]