| Literature DB >> 27617135 |
Abstract
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions. Insofar as corneal opacities are a known entity in trisomy 18 and have been considered by some to be of clinical importance, iridolenticular adhesions may also be a noteworthy manifestation of the disease's anterior segment dysgenesis.Entities:
Keywords: anterior segment dysgenesis; iridolenticular adhesions; trisomy 18
Year: 2015 PMID: 27617135 PMCID: PMC4906529 DOI: 10.1055/s-0035-1565266
Source DB: PubMed Journal: J Pediatr Genet ISSN: 2146-460X