Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6

Am J Med Genet. 1986 Oct;25(2):281-7. doi: 10.1002/ajmg.1320250212.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 6*
  • Glaucoma / congenital
  • Glaucoma / genetics*
  • Humans
  • Hydrocephalus / genetics*
  • Infant
  • Iris / abnormalities*
  • Male
  • Ring Chromosomes*
  • Uvea / abnormalities