Turner Syndrome and Mosaic Turner Syndrome

Main Features

  • Usually phenotypically female
  • Short stature
  • Webbed neck
  • “Shield chest” with wide-spaced nipples
  • cubitus valgus
  • hearing loss
  • Cardiac malformations
    • Bicuspid Aortic valve
    • Coarctation of the aorta
    • Partial anomalous pulmonary venus return
    • Aortic dilation and dissection

Eye Findings

  • Refractive error
    • Hyperopia more common
  • Strabismus
    • Esotropia more than exotropia
  • Amblyopia
  • Rare problems (few case reports)
    • Early onset cataracts
    • Keratoconus
    • Limbal stem cell deficency
    • Anterior lenticonus
    • Retinal detachment
  • Mosaic Turner reported ocular problems
    • Anterior segment dysgenesis
    • microphthalmia
    • Sclerocornea
    • Congenital Glaucoma
    • Reiger Malformation

Other Findings

  • 1:2000

Etiology

  • Monosomy X

Resources