Abstract

FEBEN, C; KROMBERG, J; MCDONALD, A  and  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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