EC Ophthalmology

Edwards Syndrome or trisomy 18 is a chromosomal disorder due to an extra copy of chromosome 18, mosaic trisomy or partial 18q trisomy. The syndrome is associated with multiple malformations involving any organ or system and have been considered lethal owing to its poor prognosis. In trisomy 18 generalized abnormalities affect all systems. However, ocular findings in this entity are rarely reported. Here, we presente a case with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and palpebral abnormalities.

Keywords: Trisomy 18; Newborn; Corneal Opacity; Eye Disorder; Case Report

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