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Does anyone know about ear pits and links to renal abnormalities?

(1 Post)
DoreensEatingHerSoreen Mon 14-Nov-16 19:17:46

Have just returned from a genetics appointment with DS and his DF. We were there to talk about the strong family history of cardiomyopathy (XP required a heart transplant at 24). When asked about any birthmarks / distinguishing features, we mentioned that DS, his DF and his DGF all have ear pits (a tiny hole in the outer ear that almost looks like a piercing). The consultant was very interested in these, took some pictures etc. and mentioned that they can be genetically linked to kidney abnormalities.
DS and his DF have now both been referred for renal ultrasounds, which was a bit of a surprise considering we were there to discuss genetics in relation to the heart condition.
Does anybody have any knowledge or experience of this?

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