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Figure 2 | BMC Medical Genetics

Figure 2

From: Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

Figure 2

Clinical and radiological features of Patients 2 and 3. A) Patient 2: mild scaphocephaly, hypotelorism, large ears, elongated face, micro-retrognathia, winged scapulae, scoliosis (a,b), genua valga, easy bruising, small atrophic scar over left knee (c), tortuosity of aortic arch and brachiocephalic vessels (d), marked tortuosity of intraparenchymal arteries (e). B) Patient 3: mild scaphocephaly, epicanthus, hypotelorism, large ears, elongated face, microretrognathia (a,b), winged scapulae, scoliosis (c), pes planus, piezogenic papules (d), right ventricular hypertrophy with left ventricular compression (e), marked tortuosity of intraparenchymal arteries (f).

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BMC Medical Genetics

ISSN: 1471-2350

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