In 2005, Bart Loeys and Harry Dietz described a new syndromic aneurysmal entity. Its patients
were typically characterized by a clinical triad that included hypertelorism (widely spaced …

… LDS was first described in 2005 by Bart Loeys and Harry Dietz. In its most typical presentation,
it can be distinguished from MFS by the unique presence of hypertelorism, abnormal …

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 …

… In contradistinction, Loeys-Dietz syndrome type II patients may … Loeys-Dietz syndrome type
II than in Loeys-Dietz syndrome type I patients [2]. In fact, the cardiovascular outcome of Loeys…

… (A) Indications for surgery in 21 patients with Loeys-Dietz syndrome undergoing surgical
repair. (B) Aortic operations in 21 patients with Loeys-Dietz syndrome.*Both patients had …

… We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys–Dietz
syndrome (type I) and in 12 probands presenting with vascular Ehlers–Danlos syndrome (Loeys–…

Background: Loeys-Dietz syndrome is a recently recognized multisystemic disorder caused
by mutations in the genes encoding the transforming growth factor-beta receptor. It is …

The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology),
outlined by international expert opinion to facilitate accurate recognition of this genetic …

We report heterozygous mutations in the genes encoding either type I or type II transforming
growth factor β receptor in ten families with a newly described human phenotype that …

Aortic aneurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder
caused by mutations in the gene that encodes fibrillin-1. Selected manifestations of MFS reflect …