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Material submitted for publication in the South African Medical Journal (SAMJ) is accepted provided it has not been published elsewhere. Copyright forms will be sent with acknowledgement of receipt and the SAMJ reserves copyright of the material published. The SAMJ does not hold itself responsible for statements made by the authors.
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Timely diagnosis of vascular Ehlers Danlos syndrome – the need for genetic testing and counselling
Abstract
Summary: We present a case of a young female patient diagnosed clinically and molecularly with V-EDS and briefly review the published literature on this severe condition. Additionally, the case is used to highlight the need for early confirmation of diagnosis and appropriate referral to allow surveillance, intervention and genetic counselling.
