Osteogenisis ImperfectaOI is several genetically & clinically heyerogeneous syndromes, characterized by skeletal fragility. disease characterized by failure of maturation and organization of collagen fibers; - defect in collagen (procollagen to type I collagen sequence and abnormal cross linking) leading to decreased collagen secretion, bone fragility; - there may be an inability to form normal bone due to a defect in osteoblastic function Ability to sit by 10 months of age is a good predictor of future walking ability.
Classification:
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