Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
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منابع مشابه
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-...
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BACKGROUND Loeys-Dietz syndrome (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, hypertelorism, and bifid uvula or cleft palate. The results of prophylactic root replacement using valve-sparing procedures (valve-sparing root replacement [VSRR]) in patients with LDS is not known. METHODS We reviewed all patients with clinical and ge...
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Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant genetic syndrome caused by mutations in the gene encoding transforming growth factorreceptor 1 or 21 with no known cardiac involvement. Common characteristics include aortic and arterial aneurysms or dissections, orbital hypertelorism, and cleft palate or bifid uvula. We report the first case of a cardiomyopathy associated wi...
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A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection ...
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V.J. Rodrigues S. Elsayed B.L. Loeys H.C. Dietz D.M. Yousem BACKGROUND AND PURPOSE: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifest...
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ژورنال
عنوان ژورنال: Case Reports in Genetics
سال: 2017
ISSN: 2090-6544,2090-6552
DOI: 10.1155/2017/7263780