Figure 1: Clinical and molecular characteristics.
From: Arterial tortuosity syndrome: 40 new families and literature review
(a) Typical craniofacial features in six patients (F29, F30, F31, and the sisters F27:IV-1, F27:IV-3, F27:IV-4). Note a long face, hypertelorism, downslanting palpebral fissures, sagging cheeks, large ears, beaked nose. (b) Vascular imaging. Patient F19: 3D vascular imaging of the aorta and aortic side branches (frontal view) showing tortuosity of the aorta, supra-aortic, and pulmonary arteries. Patient F23: Thoracic and upper abdominal magnetic resonance imaging (frontal view) showing significant tortuosity of both the thoracic and abdominal aorta. Patient 29: Brain magnetic resonance imaging showing generalized tortuosity of the intracranial arteries. (Upper, transverse view; lower, anterior coronal view). (c) Cartoon of GLUT10 showing all currently identified mutations (newly identified mutations indicated in bold). GLUT10 contains 12 hydrophobic transmembrane domains (ovals) and a hydrophilic loop containing a potential N-linked glycosylation site between transmembrane domains 9 and 10.
