PMC6235474_01
(A) wrist hypermobility; (B) high arched palate; (C) positive wrist sign; (D) positive thumb sign; (E) pectus carinatum; (F) dysmorphic facial features
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Figure 1 demonstrates the patients typical clinical signs of MFS.
Chest radiograph of index case
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Chest X-ray (Figure 2) showed an increased cardiothoracic ratio of greater the 50%.
(A) echocardiographic findings of a dilated aortic root; (B) prolapsing mitral valve leaflet; (C) mitral valve regurgitation
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The ejection fraction was 65% and no evidence of aortic dissection was noted (Figure 3).
(A) transverse section showing abdominal aorta dilation; (B) dilation of abdominal aorta; (C) dilated aortic root; (D) lumbar-sacral spine deformity with dural ectasia; (E) sacral spine deformity with dural ectasia
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Computerised tomography (CT) (Figure 4 and its subsets) showed dilatation of the aortic sinuses of valsava extending to the ascending aorta.