title: Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.
abstract: 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.
authors.affiliation: Department of Pathology, Montreal Children's Hospital, Quebec, Canada.
authors.forename: J P
authors.initials: JP
authors.lastname: de Chadarévian
authors.forename: P
authors.initials: P
authors.lastname: Kaplan
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: B S
authors.initials: BS
authors.lastname: Kaplan
mesh_terms: 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