Article
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
The Turkish journal of pediatrics - 1 Jan 2000
Kiliç Esra, Alanay Yasemin, Utine Eda, Ozgen-Mocan Burçe, Robinson Peter N, Boduroğlu Koray
Abstract excerpt
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome with multisystem involvement. The disease is typically characterized by the triad of arterial tortuosity and aneurysms,...
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