Living a Life with LDS (September 12, 2020) E3 Summit
13:15-14:47
Like Marfan syndrome we noticed that there could be skeletal findings including scoliosis and which is a curvature of the spine, chest wall deformities with either the chest going in or outward called pectus excavatum or carinatum and could be long fingers also called arachnodactyly.
Marfan症候群と共通の骨格的所見として、背骨が湾曲する側弯症や胸骨がへこんだ状態である漏斗胸や胸骨が外に突き出した鳩胸、クモ指症と呼ばれる長い指などがあります。
But there is also features that are quite unique in addition to the triads that I already described with the hypertelorism, the widely spaced eyes, the cleft palate bifud uvula and the aneurysm development throughout the arterial tree with the tortuosity. We also noticed that there is quite often a craniosynostosis so a premature fusion of the skull bones.
ですが、先ほどお話しした3つの特徴（両眼隔離症、口蓋垂裂、全身の動脈のねじれ）以外にも、頭蓋骨癒合症と呼ばれる非常に特徴的な所見があります。頭蓋骨が通常よりも早い時期にくっついてしまう病気です。
Many patients also present problems at the cervical spine with neck instability. Club feet is more common than Marfan syndrome.
また、Loeys-Dietz症候群の多くの患者さんで頸骨不安定症がみられ、内反足についてはMarfan症候群よりも高い頻度で認められます。
And we also noticed some other congenital heart anomalies such as the bicuspid aortic valve. A normal aortic valve is consisting out of three leaflets. Many patients with Loeys-Dietz syndrome have only two. There could be connections between the systemic circulation and the lung circulation called patent ductus arteriosus or connections between some of the parts in the heart called atrial septal defects.
さらに、大動脈弁二尖弁などの先天的な心疾患があることもわかっています。通常の大動脈弁には弁尖が3つありますが、多くのLoeys-Dietz患者さんで弁尖が2つしかありません。その他には、体循環と肺循環がつながる動脈管開存症や心臓の部屋同士がつながる心房中隔欠損症がみられることがあります
As you can see at the images there is also not only joint hypermobility but also contractures specifically of the of the fingers.
このスライドの画像からもわかりますが、関節の過可動性の他に、指の拘縮もみられます。
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。
