Learning Radiology xray montage

Turner's Syndrome

  • General considerations
    • 1 out of every 2,000-2,500 female live births
    • Almost all (95%) have
      • Short stature
      • Loss of ovarian function
    • Caused by the absence of a set of genes from the short arm of one X chromosome
    • Single X chromosome
      • 75-80% single X is contributed by mother
      • X-O = Female (Turner Syndrome)
      • X-X-Y=Male (Klinefelter Syndrome)
      • Hearing loss due to otosclerosis is common in adults
  • Appearance
    • Short stature
      • Absent adolescent growth spurt
      • Average adult height is 4 feet 8 inches
      • Loss of SHOX gene necessary for growth of long bones
    • Short fingers (4th metacarpal)

    • Short toes
    • Cubitus valgus – increased carrying angle (arms turn outward at elbow) the elbow
    • Webbed neck
    • Widely spaced nipples (shield crest)
    • Excessive number of nevi
    • Higher incidence of hip dislocation in infants
    • Scoliosis in up to 10%
    • Cutis laxa – loose folds of skin especially around neck
  • Puberty and reproduction
    • Loss of ovarian function usually in early childhood
    • Delayed puberty
    • Estrogen therapy is frequently used to induce changes of puberty
  • Cardiovascular
    • Coarctation of the aorta in 5-10%
    • Bicuspid aortic valves in 15%
    • Increased risk of aortic dissection
    • Hypertension
      • May be due to coarct or renal abnormalities or occur in absence of both
  • Renal
    • Horseshoe kidney
  • Osteoporosis
    • High incidence due to inadequate circulating estrogen
  • Diabetes
    • Type II (Insulin-resistant) diabetes
    • Thyroid
      • About 1/3 are hypothyroid, often with an enlarged thyroid
  • Intelligence
    • Normal intelligence

Short 4th metacarpal in Turner Syndrome. A line (white line) drawn across the
heads of the 4th and 5th metacarpals will normally not transect a portion of the head of the 3rd metacarpal unless the 4th metacarpal is short (see list above).

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SE Gibson and RA Prayson. Primary Pediatric Skull Lesions. Arch Pathol Lab Med:  Vol 131, May 2007