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The Loeys–Dietz* syndrome was first described in 2005 as an autosomal dominant syndrome (OMIM number 609192). It is characterised by aortic and peripheral aneurysms and arterial tortuosity, bifid uvula and/or cleft palate, and hypertelorism, and is caused by mutations in the genes for the transforming growth factor β receptors 1 or 2 (TGFBR1 at chromosome 9q33–q34 or TGFBR2 at chromosome 3p22).
The syndrome was first described in 10 families and is now found in an additional 42 families (
; see also editorial, ibid: 841–4). Of the 52 probands, 40 had all the features of the Loeys–Dietz syndrome and were …
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