Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness
- 1 January 1987
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 28 (S3) , 323-328
- https://doi.org/10.1002/ajmg.1320280538
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.Keywords
This publication has 7 references indexed in Scilit:
- Preferential Transmission of Diabetic Alleles within the HLA Gene ComplexNew England Journal of Medicine, 1986
- Contiguous gene syndromes: A component of recognizable syndromesThe Journal of Pediatrics, 1986
- Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral CalcificationNew England Journal of Medicine, 1985
- Renal tubular acidosis and nerve deafness.Archives of Disease in Childhood, 1980
- THE SYNDROME OF RENAL TUBULAR ACIDOSIS WITH NERVE DEAFNESSActa Paediatrica, 1976
- Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular AcidosisJournal of Clinical Investigation, 1974
- Congenital Glaucoma (Possibly Lowe's Syndrome)Archives of Ophthalmology (1950), 1962