TY - JOUR
T1 - Brief clinical report
T2 - Aniridia, congenital glaucoma, and hydrocephalus in a male infant with Ring chromosome 6
AU - Levin, H.
AU - Ritch, R.
AU - Barathur, R.
PY - 1986
Y1 - 1986
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0022794655&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320250212
DO - 10.1002/ajmg.1320250212
M3 - Article
C2 - 3777023
AN - SCOPUS:0022794655
SN - 0148-7299
VL - 25
SP - 281
EP - 287
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -