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- Malhotra, A. & Westesson, PL. Pediatr Radiol (2009) 39: 1015. doi:10.1007/s00247-009-1252-3
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Loeys-Dietz syndrome (LDS) is an autosomal dominant syndrome caused by mutations in genes encoding transforming growth factor beta receptor (TGFBR1 or TGFBR2) . Marfan and Ehlers-Danlos syndromes share many features, including aortic and arterial aneurysms/dissections with pronounced tortuosity (corkscrew structure) of arteries . It is important to distinguish among them because vascular surgery has a better prognosis in children with LDS. Cleft palate or bifid uvula and orbital hypertelorism are helpful distinguishing features seen in LDS.