Background: The syndrome of Loeys-Dietz (LDS) is a rare connective tissue disorder. A classic triad of symptoms is seen: hypertelorism, atypical uvula or clef palate, and multiple tortuous arteries and aneurysms of the aorta and main arterial branches. Mutations in genes involving the transforming growth factor-beta (TGFB) signaling pathway are the cause of this syndrome.
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