Turner Syndrome and Mosaic Turner Syndrome

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

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/