case_images: PMC3425039_01
case_images: Elfin faces.
case_images: CRIM2012-585726.001.jpg
case_images: PMC3425039_01_CRIM2012-585726.001.jpg
case_images: fig1
case_images: The patient had a typical face with bulge forehead (Figure 1), and also she had a speech problem; although she had a good auditory rote memory and could follow the orders, she could not normally say the words and sentences.
case_images: Angiography. Left ventricle injection: supraaortic stenosis.
case_images: CRIM2012-585726.002.jpg
case_images: PMC3425039_01_CRIM2012-585726.002.jpg
case_images: fig2
case_images: Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis; then angiography was done and showed: left ventricle injection: mild supraaortic stenosis (Figure 2), in pulmonary artery injection: mild multiple peripheral pulmonary stenosis (Figure 3), and in abdominal aorta injection: bilateral renal arteries stenosis (Figure 4).
case_images: Angiography. Pulmonary artery injection: peripheral pulmonary stenosis.
case_images: CRIM2012-585726.003.jpg
case_images: PMC3425039_01_CRIM2012-585726.003.jpg
case_images: fig3
case_images: Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis; then angiography was done and showed: left ventricle injection: mild supraaortic stenosis (Figure 2), in pulmonary artery injection: mild multiple peripheral pulmonary stenosis (Figure 3), and in abdominal aorta injection: bilateral renal arteries stenosis (Figure 4).
case_images: Angiography. Abdominal aorta injection: renal artery stenosis.
case_images: CRIM2012-585726.004.jpg
case_images: PMC3425039_01_CRIM2012-585726.004.jpg
case_images: fig4
case_images: Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis; then angiography was done and showed: left ventricle injection: mild supraaortic stenosis (Figure 2), in pulmonary artery injection: mild multiple peripheral pulmonary stenosis (Figure 3), and in abdominal aorta injection: bilateral renal arteries stenosis (Figure 4).
case_images: FISH report: signal for 7q11 is labeled in green and 7q22 region is labeled in red. Fluorescent in situ hybridization was performed using cytocell Williams-Beuren region probe. The Williams-Beuren region probe is optimized to detect copy numbers of the ELN gene region at 7q11.2. The 7q22 region-specific DNA probe at 7q22 is included as control probe, where the signal for 7q11 is labeled in green and 7q22 region is labeled in red. The patient was found to have two chromosomes 7, one of which showed no signals corresponding to the test probes diagnostic Williams syndrome. Conclusion: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams' syndrome.
case_images: CRIM2012-585726.005.jpg
case_images: PMC3425039_01_CRIM2012-585726.005.jpg
case_images: fig5
case_images: Fluorescent in situ hybridization was performed (Figure 5), and the result was 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams' syndrome.