BPES - terminology and good site for starting research

[Guest guest]

Hi all

Just thought I should mention to those people who have not see these

site:

OMIM

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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100

This is a very good starting point for finding out more about BPES

syndrome. There are many links here.

United States National Library of Medicine

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http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=65

(same comment as above)

Article about early surgery

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http://www.blackwell-synergy.com/links/doi/10.1046/j.1442-

9071.2003.00621.x/abs/

List of features (please note that some people have very few of these

features)

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http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?201

When I need to see medical people, I send them these web pages or I

tell them to look up BPES. This way when we meet up they are better

prepared to discuss the matter in hand. I have found this technique

to be very effective, and I think that the people I see have found it

useful to take time to prepare. For example, before going to the

optometrist / optician, I tell them what my syndrome is called. After

all, why should they now about it? And I want to get the most out of

my appointment. Also, they are able to prepare in advance, rather

than being put on the spot.

About terminology - the best research results can be obtained by

typing in " BPES " . Remeber that " Bleph " is only one part of the

syndrome, and some people have blephorophimosis without any of the

other problems.

Lastly, when people search on the Internet, one of the ways they find

our group is because the search engines index on words. If we use the

word BPES more often, people are more likely to find our group. The

more times we use BPES, the more likely it is that our group will

appear near the top of the search results. So we would be doing

everyone a favour by using BPES in our posts, and avoiding the

term " bleph " , because it has no meaning to anyone outside our group.

Using BPES is especially helpful for people who are not native

Enclish speakers, and medical people who are doing research.

Shireen