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Figure 1 | BMC Medical Genetics

Figure 1

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 1

Clinical and angiographic features of Patient 1: mild scaphocephaly, elongated face, beaked nose, microretrognathia, elongated philtrum with congenital angioma, large ears (a,b), winged scapulae, scoliosis (c,d), hyperextensible skin over the neck (e), atrophic scar over the right the knee and elbow (f,g), and brachydactyly type D (h). An angiographic study performed between the pulmonary vessel reconstructive surgery and the following stenting revealed the tortuosity of the aorta and the origin of the brachiocephalic vessels (i) and the narrow origin of the pulmonary artery branches and their tortuous course (j).

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BMC Medical Genetics

ISSN: 1471-2350

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