Turner Syndrome and Mosaic Turner Syndrome -CEW

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======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====
  * {{::turner_syndrome.pdf |Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery. Moshifar Majid et al. J Clin Med. 2022;11:6853}}
  *  [[https://pubmed.ncbi.nlm.nih.gov/9349149/ |Anterior Segment Dysgenesis in Mosaic Turner Syndrome. Lloyd IC, Haigh PM, Clayton-Smith J, et al. The British Journal of Ophthalmology. 1997;81(8):639-43]]
  * [[https://pubmed.ncbi.nlm.nih.gov/9737776/| Microphthalmia With Linear Skin Defects Syndrome in a Mosaic Female Infant With Monosomy for the Xp22 Region: Molecular Analysis of the Xp22 Breakpoint and the X-Inactivation Pattern. Ogata T, Wakui K, Muroya K, et al. Human Genetics. 1998;103(1):51-6]]

{{tag>syndrome}}
syndrome