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South African Journal of Surgery
versão On-line ISSN 2078-5151
versão impressa ISSN 0038-2361
Resumo
FEBEN, C; KROMBERG, J; MCDONALD, A e KRAUSE, A. Timely diagnosis of vascular Ehlers Danlos syndrome - the need for genetic testing and counselling. S. Afr. j. surg. [online]. 2018, vol.56, n.3, pp.30-33. ISSN 2078-5151. http://dx.doi.org/10.17159/2078-5151/2018/v56n3a2440.
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.
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