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Osteogenesis imperfecta: an overview

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Bone mineral density in children with Ol has been shown to correlate with motor achievement and may be predictive for future fracture or surgical intervention5, although no criteria exist to guide diagnosis and treatment (in contrast to post-menopausal osteoporosis6). A biochemical analysis of the collagen 1 may be performed on tissue derived from a skin biopsy and fibroblast culture, but this is often challenging to retrieve and timeconsuming, so results are not available for several weeks Direct genomic DNA analysis from blood is becoming more widely available in clinical practice, improving speed and accuracy of diagnosis and facilitating genetic counselling and prenatal diagnosis7.

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