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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
- 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/