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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.
COL1A1/2-related osteogenesis imperfecta is inherited in an autosomal dominant manner. The proportion of cases caused by a De novo COL1A1 or COL1A2 mutations are the cause of osteogenesis imperfecta in the vast majority of perinatally lethal osteogenesis imperfecta, and progressively deforming osteogenesis imperfecta.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Wormian bones are a marker for some diseases and important in the primary diagnosis of brittle bone disease: osteogenesis imperfecta. [5] Wormian bones may also be seen in: [6] Pycnodysostosis; Osteogenesis imperfecta; Rickets "Kinky-hair" Menke's syndrome; Cleidocranial dysostosis; Hypothyroidism and hypophosphatasia; Otopalatodigital syndrome
It is considered to be a lethal disease, and usually leads to death within a few hours of birth. However, a recent report describes two studies in which children with Raine syndrome have lived to 8 and 11 years old, so it is currently proposed that there is a milder expression that the phenotype can take (Simpson 2009).
Films about osteogenesis imperfecta (1 C, ... Blount's disease; Bone erosion; Bone malrotation; ... Platyspondylic lethal skeletal dysplasia, Torrance type ...
All of these changes prevent the normal production of mature type I collagen, which results in this severe condition, type II osteogenesis imperfecta. Osteogenesis imperfecta, type III: Mutations in the COL1A1 gene may result in the production of a protein that is missing segments, making it unusable for collagen production. Other mutations ...
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]