Guest guest Posted January 27, 2011 Report Share Posted January 27, 2011 -- I have a 8 year old daughter who obviously has BPES, however with her lastsugery at age 6, they did the blood work and the blood work did not showup that she has BPES. This was done in CHOPS of Philadelphia with Dr. Katowitz. Dr. Katowitz told us that about 10 of the all the children tested came back the same as our daughter. He also told us that obviously shehas ALL the symptoms but now he is wondering if there is another genetic malformation that causes BPES.Has anyone heard about this? thank-you. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 28, 2011 Report Share Posted January 28, 2011 Hi SteveThis is very interesting. I wonder if you can ask for more details? I could then forward them to the 2 geneticist who I am in touch with, and ask them for their thoughts. Of course, it is possible that these people all talk to each other regularly anyway, but hey, can’t hurt can it?Best wishesShireenLondon, England From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of steve martinSent: 27 January 2011 20:25blepharophimosis Subject: blepharophimosis BPES genetic testing -- I have a 8 year old daughter who obviously has BPES, however with her lastsugery at age 6, they did the blood work and the blood work did not showup that she has BPES. This was done in CHOPS of Philadelphia withDr. Katowitz. Dr. Katowitz told us that about 10 of the all the children tested came back the same as our daughter. He also told us that obviously shehas ALL the symptoms but now he is wondering if there is another geneticmalformation that causes BPES.Has anyone heard about this? thank-you. Quote Link to comment Share on other sites More sharing options...
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