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turner_syndrome [2025/04/14 03:23] – created Scott Larsonturner_syndrome [2025/10/01 15:18] (current) – Scott Larson
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   * Short stature   * Short stature
   * Webbed neck   * Webbed neck
-  * "shield chest" with wide-spaced nipples+  * "Shield chest" with wide-spaced nipples
   * cubitus valgus   * cubitus valgus
   * hearing loss   * hearing loss
   * Cardiac malformations   * Cardiac malformations
-    * +    * Bicuspid Aortic valve 
 +    * Coarctation of the aorta 
 +    * Partial anomalous pulmonary venus return 
 +    * Aortic dilation and dissection
  
 ====Eye Findings==== ====Eye Findings====
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     * Anterior lenticonus     * Anterior lenticonus
     * Retinal detachment      * Retinal detachment 
-  * Mosaic Turner Findings+  * Mosaic Turner reported ocular problems
     * Anterior segment dysgenesis     * Anterior segment dysgenesis
     * microphthalmia     * microphthalmia
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 ====Resources==== ====Resources====
   * {{::turner_syndrome.pdf |Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery. Moshifar Majid et al. J Clin Med. 2022;11:6853}}   * {{::turner_syndrome.pdf |Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery. Moshifar Majid et al. J Clin Med. 2022;11:6853}}
-  * 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. doi:10.1136/bjo.81.8.639. https://pubmed.ncbi.nlm.nih.gov/9349149/  +  *  [[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]] 
-  * 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. doi:10.1007/s004390050782. https://pubmed.ncbi.nlm.nih.gov/9737776/+  * [[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}} {{tag>syndrome}}