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Clinical examination Full skin examination assess for hyperextensibility of the skin and abnormal scarring The Beighton scale assess for hypermobility of a joint, in which a score of 5 or more indicates generalised joint hypermobility Investigations Skin biopsy for histology, fibroblast culture, and electron microscopy When suspecting kyphoscoliotic EDS, a urine sample is taken to measure the ratio of lysyl-pyridinoline to hydroxylysyl-pyridinoline cross-links Molecular genetic testing confirms the diagnosis, except in the case of hypermobile EDS, which has an unknown genetic basis and so is a clinical diagnosis which must meet all the clinical criteria

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Retrieved April 1, 2022