Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III

Silvy Dekker,Carlijn G E Thijssen, Denise Vd Linde, Ingrid M B H Vd Laar,Jasper J Saris,Adriaan C G M van Es,Pieter-Jan van Doormaal, Paul van Bronswijk,Fop van Kooten,Jolien W Roos-Hesselink

European Journal of Medical Genetics（2022）

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摘要

The aim of this article is to describe neurovascular findings in patients with Loeys Dietz syndrome type III and their possible clinical impact. Loeys Dietz syndrome type III, caused by pathogenic SMAD3 variants, is an autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. Neurovascular abnormalities have been described in other heritable aortic syndromes, however, reliable data in Loeys Dietz syndrome type III is missing.

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关键词

Neurovascular abnormalities,Cranial aneurysm/dissection/tortuosity,Loeys-Dietz syndrome type III,SMAD3 mutation,Aorta aneurysms osteoarthritis syndrome

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