Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18)
14:21-15:57
Now I'm going to go through some of the physical features and I'll stress when a physical feature only helps us in making the diagnosis and also when a physical feature gives us concern, when, when it's a problem that needs to be addressed.
では、ロイス・ディーツ症候群の身体的な特徴の説明に入ります。診断の手がかりとしてのみ利用される特徴と、懸念があり処置が必要となる特徴とがありますが、その都度、違いがわかるように説明します。
As I mentioned, there are often features in what we call the craniofacial system that's the abnormalities of the head and of the face including a premature fusion of the skull, a situation that we call craniosynostosis, widely-spaced eyes something called hypertelorism, again a cleft palate. So all of those features are useful diagnostically; they're different from what you expect in Marfan syndrome.
既にお話しましたが、頭部と顔面の異常が多く見られます。例えば、頭蓋骨が早期に塞がる頭蓋骨癒合症や眼の感覚が広い両眼隔離症、口蓋裂などです。これらの特徴はマルファン症候群ではみられず、ロイス・ディーツ症候群の診断に使われます。
The uvula is something that we pay a lot of attention to, not because it's a problem per se, but rather because it really is important and keying us into the diagnosis of Loeys-Dietz syndrome. It's abnormal and about 90% of people that are ultimately shown to have Loeys-Dietz syndrome.
口蓋垂（のどちんこ）の診察は注意深く行います。それ自体問題とはなりませんが、診断確定において非常に重要な情報です。異常な所見であり、ロイス・ディーツ症候群の方の約90%に認められます。
You can see that there are many different flavors of abnormalities of the uvula; from one that simply appears wide to one that has a crease down the middle; one that's only split at the tip to one that is fully split where it appears that there are two separate uvulas in the back of the throat.
ロイス・ディーツ症候群にみられる口蓋垂には様々なバリエーションがあります。単純に幅が広いもの、真ん中にひだがみられるもの、先端のみが割れているもの、完全に2つに割れているためにのどちんこが2つあるように見えるものまであります。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.orgにアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
