Main clinical features
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characterized by twisting and lengthening of the major arteries, hypermobility of the joints, and laxity of skin (PMID: 20547159))
generalized tortuosity and elongation of all major arteries including the aorta with telangiectases of the cheeks, aortic regurgitation and histologic fragmentation of the internal elastic membrane of arteries associated to typical facies, micrognathia, elongated face, blepharophimosis and beaked nose, skin laxity, contractures, joint laxity, cleft palate or bifid uvula |