Brief clinical report: Aniridia, congenital glaucoma, and hydrocephalus in a male infant with Ring chromosome 6

H. Levin, R. Ritch, R. Barathur

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

A premature infant with unilateral aniridia and congenital ectropion uveae, contralateral Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring chromosome 6. The findings are consistent with multiple manifestations of a neural crest-derived maldevelopment of the anterior segment and central nervous system. Comparison with the 14 previously reported cases of ring chromosome 6 illustrates the phenotypic variability of this syndrome.

Original languageEnglish
Pages (from-to)281-287
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume25
Issue number2
DOIs
StatePublished - 1986
Externally publishedYes

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