Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.
A consanguinous couple had a healthy boy and 2 children, a girl and a boy, with distal renal tubular acidosis and sensory nerve deafness. In addition, the girl had congenital glaucoma and malformation of the iris; the boy developed Wilms tumor and insulin-dependent diabetes mellitus. The possible significance of these associations is discussed.
de Chadarévian
J P
JP
Department of Pathology, Montreal Children's Hospital, Quebec, Canada.
Kaplan
P
P
Vekemans
M
M
Kaplan
B S
BS
D000141:Acidosis, Renal Tubular / Q000235:genetics*; D000328:Adult; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005808:Genes, Recessive; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D007498:Iris / Q000002:abnormalities; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics