Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.

@article{Ward2002OsteogenesisIT,
  title={Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.},
  author={Leanne M. Ward and Frank Rauch and Rose Travers and Guillaume Chabot and E. Michel Azouz and L Lalic and Peter J. Roughley and Francis H Glorieux},
  journal={Bone},
  year={2002},
  volume={31 1},
  pages={
          12-8
        }
}
Osteogenesis imperfecta (OI) is a heritable disease of bone with low bone mass and bone fragility. The disease is generally classified into four types based on clinical features and disease severity, although recently fifth and sixth forms have also been reported. Most forms of OI are autosomal dominant. Rarely, autosomal recessive disease has been described. We report the clinical, radiological, and histological features of four children (age 3.9-8.6 years at last follow-up; all girls) and… Expand
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TLDR
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Evidence of defects in all three mechanisms, which normally lead to an increase in bone mass during childhood, are regarded as a disease in which a single genetic defect in the osteoblast interferes with multiple mechanisms that normally ensure adaptation of the skeleton to the increasing mechanical needs during growth. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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Abstract We report two sibs with severe, progressively deforming osteogenesis imperfecta (OI) and homozygosity by descent for a glycine 751 to serine substitution in the α2(I) collagen chain due to aExpand
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