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South African Journal of Surgery

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Timely diagnosis of vascular Ehlers Danlos syndrome – the need for genetic testing and counselling

C Feben, J Kromberg, A McDonald, A Krause

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.




http://dx.doi.org/10.17159/2078-5151/2018/v56n3a2440
AJOL African Journals Online