Show pageExport to PDFBack to top 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 Findings * 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}} * 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/ * 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/ {{tag>syndrome}} syndrome