Tuesday, August 13, 2013

Turner's syndrome


  • 45X0

  • Associated with increased nuchal transluscency, coarctation of the aorta, atrial septal defects, cystic hygroma, fetal hydrops.

  • There is -
  1. short stature with no adolescant growth spurt, 
  2. webbed neck, 
  3. wide carrying angle, 
  4. hypoplasia of the nails and short fourth metacarpals, 
  5. broad chest with widely spaced nipples and 
  6. a low hair line
  7. peripheral lymphoedema in 40% of cases.

  • Streak ovaries with primary amenorrhoea (menstruation may occur in some and pregnancy has been reported).

  • Increased risk of systemic hypertension and Hashimoto's thyroiditis.

  • Normal intellectual development.

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