Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6; D005901:Glaucoma / Q000151:congenital / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D008297:Male; D012303:Ring Chromosomes; D014602:Uvea / Q000002:abnormalities