RE: mild epicanthus

[Guest guest]

Hi Debbie

Welcome to the group. I was unfamiliar with hemihypertrophy so I spent a bit of time looking it up on the Internet. Also - have never come across anyone who has just epicanthus (apart from people where it is part of their race to have it - eg people from Mongolia). Do you know if it is "epicanthus inversus"? Is this in both eyes or just one eye?

Here is a definition:

from the Journal of Medical Genetics, 1988

Epicanthus inversus: Small skin fold which arises from the lower lid and runs inwards and upwards. Associated with this is an increased length of the medial canthal ligament and a lack of the normal depression seen at the internal canthus.

(In simple English: a vertical fold of skin from the lower eyelid up either side of the nose. )

And here is a small illustration:

http://images.google.co.uk/imgres?imgurl=http://www.mercksource.com/ppdocs/us/common/dorlands/dorland/images/fig_e_0018.jpg & imgrefurl=http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszSzcommonzSzdorlandszSzdorlandzSzdmd_e_11zPzhtm & h=121 & w=150 & sz=8 & tbnid=mmZunZ9ApaAJ: & tbnh=72 & tbnw=89 & start=3 & prev=/images%3Fq%3Depicanthus%26hl%3Den%26lr%3D%26ie%3DUTF-8%26sa%3DG

In that illustration the person seems to have epicanthus, (not epicanthus inversus)

I thought I should put the above information in this post - just so that others reading it can follow what we are saying

Summer might be too young for anyone to notice anything different. People who have BPES sometimes have such a mild case of it that it quite difficult to tell - and they go undiagnosed for a good part of their lives.

I guess the way I would look at it is that the specialist would be able to spend time looking at Summer, and may advise you to come back when she is older. Maybe they will take some measurements, photos, etc, and this will help them understand how she grows. The other point is that if the specialist gets to meet more people with the same disorder, they will have more of a knowledge base.

From what you say, it seems that the epicanthus is not getting in the way of Summer's eyesight or is very noticeable.

Take care, Shireen

-----Original Message-----From: langstonsum [mailto:langstonsum@...]Sent: 16 September 2004 16:03blepharophimosis Subject: blepharophimosis mild epicanthus Hi everyone, I,m a 39 year old mother of three children,married 21 years now,and my beautiful 14 month old daughter Summer has recently been diagnosed with a growth disorder called hemihypertrophyand a mild case of epicanthus,which im totaly in the dark about. Her genetic Dr.has told us if we would like for her to go see a specialistin optimology she would refer us. But we havent really considered it because,she doesnt seem to us,to have any real differences. But her genetic Dr. does. Can anyone enlighten me on this please. debbie in fl.