Turner syndrome (TS) is a condition characterized by ovarian dysgenesis and short stature in phenotypic females who have only one sex chromosome, an X, although a partial second sex ...
Increasingly diagnosed prenatally. When karyotype is obtained in response to suggestive US findings, result is highly specific; when karyotype obtained for other reasons, false-positi...
Growth Hormone: Recombinant human GH (rhGH) at age 4 to 5 years, with evidence of growth failure, height velocity (6 months observation) <50%, or strong likelihood short stature...
For 2016 guidelines, see Gravholt et al (1).
Monitoring recommended for any patient with TS regardless of karyotype (1)[B]
Height, weight, BP, p...
Q96.9 Turner’s syndrome, unspecified
Q96.0 Karyotype 45, X
Q96.3 Mosaicism, 45, X/46, XX or XY
Q96.8 Other variants of Turner’s syndrome
Q96.1 Karyotype 46, X iso (Xq)
Q96.2 Karyotype 46, X w ab...
TS is the most common sex chromosome abnormality syndrome in females.
Edema of the hands and feet and redundant skin of the neck (webbing) are presenting features during infancy. In sch...
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Coarctation of the aorta. A. Preductal type. B. Postductal type. The caudal part of the body is supplied by large hypertrophied intercostal and internal thoracic arteries.
Coarctation of the aorta. A. Preductal type. B. Postductal type. The caudal part of the body is supplied by large hypertrophied intercosta...
<bold>Figure 33-35</bold> Magnetic resonance image of aortic coarctation in a 1 day old. Arrow indicates focal coarctation in the distal end of a hypoplastic aortic arch.
<bold>Figure 33-35</bold> Magnetic resonance image of aortic coarctation in a 1 day old. Arrow indicates focal coarctation in ...
<bold>Fig CA 8-1 Coarctation of the aorta.</bold> Plain chest radiograph demonstrates the figure-3 sign (arrow points to the center of the 3).
<bold>Fig CA 8-1 Coarctation of the aorta.</bold> Plain chest radiograph demonstrates the figure-3 sign (arrow points to the c...
<bold>FIGURE 7-7</bold> Turner syndrome. Short stature, stocky build, crest chest, lack of breast development, and cubitus valgus are evident in this 13-year-old girl.
<bold>FIGURE 7-7</bold> Turner syndrome. Short stature, stocky build, crest chest, lack of breast development, and cubitus val...
A 25-year-old woman with coarctation of the aorta. There is increased curvature of the left ventricular contour of the left heart border. The aortic arch (Ao) is inconspicuous, and the left subclavian artery (small arrows) is dilated. Note the break in the shadow of the descending aorta (large arrow) just inferior to the aortic arch at the site of the aortic narrowing. Irregular erosions (arrowheads) on the underside of the left and right fourth ribs (rib notching) are seen.
A 25-year-old woman with coarctation of the aorta. There is increased curvature of the left ventricular contour of the left heart border. ...
<bold>Figure 11. 12. CT image of asymptomatic patient with partial anomalous pulmonary venous return. A,</bold> Axial image shows vessel draining from right lung into superior vena cava. <bold>B,</bold> 3D CT Posterior view. 3D image demonstrates no superior right pulmonary vein in the usual location. The anomalous vessel can be seen near the top of the picture. <bold>C,</bold> 3D CT Anterior view. 3D workstation used to highlight two anomalous right pulmonary veins that were present draining into the superi...
<bold>Figure 11. 12. CT image of asymptomatic patient with partial anomalous pulmonary venous return. A,</bold> Axial image sh...