Renal failure and deafness: Branchio-oto-renal syndrome

American Journal of Kidney Diseases

Volumn 32, Issue 2, 1998, Pages 334-337

  Misra, Madhukar ^a   Nolph, Karl D ^b  

^a University of Missouri   (United States)

^b NONE

Author keywords

BOR syndrome; Renal failure

Indexed keywords

ADULT; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIOGENIC CYST; BRANCHIOOTORENAL SYNDROME; CASE REPORT; DIAGNOSTIC ERROR; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; HUMAN TISSUE; KIDNEY FAILURE; MALE; PHENOTYPE;

EID: 0031880009     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/ajkd.1998.v32.pm9708623     Document Type: Article

References (18)

1. Melnick M, Bixler D, Silk K, Yune H, Nance WE: Autosomal dominant branchio-oto-renal dysplasia. Birth Defects. Orig Article Series 11:121-128, 1975
2. Hilson D: Malformation of ears as sign of malformation of genito urinary tract. Br Med J 2:785-789, 1957
3. Fitch N, Srolovitz H: Severe renal dysgenesis produced by a dominant gene. Am J Dis Child 130:1356-1357, 1976
4. Fraser FC, Ling D, Clogg D, Nogrady B: Genetic aspects of the BOR syndrome - Branchial fistulas, ear pits, hearing loss and renal anomalies. Am J Med Genet 2:241-252, 1978
5. Fraser FC, Sproule JR, Halal F: Frequency of the branchio oto renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 7:341-349, 1980
6. Melnick M, Bixler D, Nance WE, Silk K, Yune H: Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes. Clin Genet 9:25-34, 1976
7. Melnick M, Hodes ME, Nance WE, Yune H, Sweeney A: Branchio-oto-renal dysplasia and brachio oto dysplasia: Two distinct autosomal dominant disorders. Clin Genet 13:425-442, 1978
8. Gu JZ, Lin X, Wells DE: The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome. Genomics 35:6-10, 1996
9. Bergsma D: Birth Defects Compendium, (ed 2). New York, NY, Liss, 1979, p 377
10. Chen A, Francis M, Ni Li, Cremers Cor WRJ, Kimberling WJ, Sato Y, Phelps PD, Bellman SC, Wagner MJ, Pembrey M, Smith RJH: Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 58:365-370, 1995
11. Carmi R, Binshtock M, Abeliovich D, Bar-Ziv J: The branchio oto renal (BOR) syndrome: Report of bilateral renal agenesis in three sibs. Am J Med Genet 14:625-627, 1983
12. Cremers CWRJ, Fikkers-Van Noord M: The earpits-deafness syndrome. Clinical and genetic aspects. Int J Pediatr Otorhinolaryngol 2:309-322, 1980
13. Chitayat D, Hodgkinson KA, Chen MF, Haber GD, Nakishima S, Sando T: Branchio-oto-renal syndrome: Further delineation of an underdiagnosed syndrome. Am J Med Genet 43:970-975, 1992
14. Dumas R, Uziel A, Baldet P, Segond A: Glomerular lesions in the branchio-oto-renal (BOR) syndrome. Int J Pediatr Nephrol 3:67-70, 1982
15. Gluecksohn-Waelsch S: Genetic control of mammalian differentiation, in Geerts SJ (ed): Genetics Today, vol 2. Proceedings of the XIth International Congress of Genetics. The Hague, Netherlands, Pergamon, 1963, pp 209-219
16. Quick CA, Fish A, Brown C: The relationship between cochlea and kidney. Laryngoscope (St Louis) 83:1469-1482, 1973
17. Arnold W, Weidauer H, Seelig HP: Experimenteller Beweis einer gemeinsamen Antigenizitat zwischen Innenohr und Nieve. Arch-Oto-Rhino-Lar 212:99-117, 1976
18. Winter JS, Kohn G, Mellman WJ, Wagner S: A familial syndrome of renal, genital and middle ear anomalies. J Pediatr 72:88-93, 1968