Turner Syndrome

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Sandal Toe Trisomy

Figure 4.55. The gap between the first and second toes ("sandal" or "thong" sign) is a typical finding in trisomy 21. The feet are broad and short. The plantar surfaces are creased with a deep long furrow (ape-line) between the first and second toes.

Figure 4.56. A close-up view of the broad short foot of an infant with trisomy 21 shows the marked separation of the first and second toes and the deep furrows on the sole.

Figure 4.56. A close-up view of the broad short foot of an infant with trisomy 21 shows the marked separation of the first and second toes and the deep furrows on the sole.

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Gracile Ribs Trisomy

Figure 4.57. Total radiograph of an infant with trisomy 21 shows the long narrow chest cage with downslanting ribs due to hypotonia. Any infant who is hypotonic has this appearance of the chest cage. The finding of eleven pairs of ribs, as in this infant, is common in Down syndrome but also may occur as a finding in normal infants. The pelvis is a typical mongoloid pelvis. The infant also had congenital heart disease (the most common defect being an endocardial cushion defect).

Figure 4.58. Lateral chest radiograph in another infant with trisomy 21 shows the increased number of sternal ossification centers. Compare this with trisomy 18 where ossification centers are decreased in number or absent (see Figure 4-36). Note that the ribs are normal in appearance as compared to the gracile delicate ribs seen in infants with trisomy 18.

Figure 4.59. Radiograph of the typical mongoloid pelvis seen in infants with trisomy 21. Note the marked lateral flaring of the ilia giving rise to the so-called "Mickey Mouse" pelvis. There is a shallow acetabular angle. Compare this with the antimon-goloid pelvis noted in infants with trisomy 18 (see Figure 4-37).

Figure 4.60. Infants with Turner's syndrome (XO syndrome) are phenotypically female although they have one of the pairs of X chromosomes missing. This term infant is short (length 43 cm) and demonstrates the short neck, shield-like chest with widely spaced nipples, and lymphedema, especially of the feet. Note also the single palmar crease on the right hand. Infants with Turner's syndrome may be small for gestational age.

Turner Syndrome

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Turner Syndrome Infant

Figure 4.61. In another example of Turner's syndrome in a term infant (length 44 cm) note the marked lym-phedema, especially of the lower extremities. Other findings in Turner's syndrome include a low posterior hairline with the appearance of a short neck, webbing of the neck, congenital heart disease (especially coarctation of the aorta), pig-mented nevi, and skeletal abnormalities.

Figure 4.61. In another example of Turner's syndrome in a term infant (length 44 cm) note the marked lym-phedema, especially of the lower extremities. Other findings in Turner's syndrome include a low posterior hairline with the appearance of a short neck, webbing of the neck, congenital heart disease (especially coarctation of the aorta), pig-mented nevi, and skeletal abnormalities.

Images Newborns Wtih Turner Syndrome
Figure 4.62. The same infant shows the marked lym-phedema in the left hand. Transient congenital lym-phedema with residual puffiness is noted over the dorsum of the hands and feet in more than 80% of infants with Turner's syndrome.

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Responses

  • ALBINO
    What are nevi in turners syndrome?
    8 years ago
  • Zufan
    What is turner's syndrome?
    8 years ago

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