Living a Life with LDS (September 12, 2020) E3 Summit
19:56-21:37
Hal made this, a very nice comparative table. We will not go into all the details. I will just point at the main differences.
この比較表はDietz先生が作成したもので、非常にわかりやすく作られています。深入りはしませんが、主な違いに絞って説明します。
So in red we've indicated findings that you almost never see in this condition, in green you see findings that are very commonly seen in this condition and then the yellow is kind of in, in between. It is present to some extent but but not very typical.
赤・・・ほとんどみられない所見
緑・・・非常によくみられる所見
黄・・・赤と緑の中間。ある程度はみられるが、それほど一般的ではない所見
となっています。
So there you can see that ectopia lentis is a finding that's uniquely present in Marfan syndrome that we do not observe in any of the subtypes of LDS nor do we see it in Shprintzen-Goldberg syndrome.
水晶体亜脱臼はMFS（マルファン症候群）に特有の所見であり、LDS（ロイス・ディーツ症候群）やSGS（シュプリツェン・ゴールドバーグ症候群）ではみられません。
When we move more to the second half of the table. There you can see that craniosynostosis as I mentioned is something that is common in most of the LDS subtypes, also typical in Shprintzen-Goldberg syndrome but absence in in Marfan syndrome.
一本目の青いラインの下の項目に頭蓋骨癒合症があります。この所見は、既に述べたように、LDSのほぼ全ての型およびSGSでみられますが、MFSではみられません。
And the same can be said with regards to the cervical spine instability, which has been observed in most of the types of LDS but not in Marfan syndrome.
頚椎不安定症についても同様です。LDSのほぼ全ての型でみられますが、MFSではみられません。
When a child presents with developmental delay the first diagnosis is probably Shprintzen-Goldberg syndrome to think about.
小児に発達遅滞がみられる場合は、最初にSGSを疑います。
And then at the bottom you can see many more of the characteristics that we talked about that are definitely more typical of LDS and absence from Shprintzen-Goldberg syndrome and Marfan syndrome and we can talk more about it these during the Q&A.
2本目の青いラインの下の項目は、ほぼすべてLDSに該当し、SGSやMFSではみられません。詳しくはQ&Aでお答えしたいと思います。
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。
