Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-25T13:35:48.622Z Has data issue: false hasContentIssue false
  • English
  • Français

The branchio-oto-renal syndrome

(Report of two family groups)

Published online by Cambridge University Press:  29 June 2007

M. Raspino ,
V. Tarantino ,
L. Moni ,
E. Verrina ,
M. R. Ciardi  and
R. Gusmano
M. Raspino
Affiliation:
Nephrology and Dialysis Department.
V. Tarantino
Affiliation:
Division of Otolaryngology
L. Moni
Affiliation:
I Pediatric Clinic of the University.
E. Verrina
Affiliation:
Nephrology and Dialysis Department.
M. R. Ciardi
Affiliation:
Nephrology and Dialysis Department.
R. Gusmano*
Affiliation:
Nephrology and Dialysis Department.
*
Prof. Rosanna Gusmano, Director Pediatric Nephrology Dept., G. Gaslini Institute, 16148 Genoa—Italy.
Get access Rights & Permissions [Opens in a new window]

Summary

The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, deafness and renal dysplasia.

We report two family groups affected by the BOR syndrome: in two-thirds of the affected children renal abnormalities led to severe renal insufficiency in early life. The necessity for a meticulous search for renal anomalies in individuals with aural and/or branchial abnormalities is emphasized. In affected families, genetic counselling is suggested.

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 102 , Issue 2 , February 1988 , pp. 138 - 141
Copyright
Copyright © JLO (1984) Limited 1988

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Arnold, W., Weidauer, H. and Seelig, H. P. (1976) Experi menteller Beweis einer gemeinsamen Antigenizitat zwischen Innenohr und Niere. Archiv fur Ohren-Nasen-Heilkunde, 219: 99–117.Google Scholar
Carmi, R., Binshtock, M., Abeliovich, D. and Bar-Ziv, J. (1983) The branchio-oto-renal syndrome (BOR) syndrome: report of bilateral renal agenesis in the three sibs. American Journal of Medical Genetics, 14: 625–627.Google Scholar
Côte', A. and O'Regan, S. (1982) The branchio-oto-renal syndrome. American Journal of Nephrology, 2: 144–146.Google ScholarPubMed
Desnos, J., Larget-Piet, L., Riberi, P., Cleirens, P. and Beucher, A. (1979) Le syndrome malformatif branchio-oto-renal. Annales d' Oto-Laryngologie, 96: 849–861.Google ScholarPubMed
Dumas, R., Uziel, A., Baldet, P. and Segond, A. (1982) Glomeru-lar lesion in the branchio-oto-renal (BOR) syndrome. The International Journal of Pediatric Nephrology, 3: 67–70.Google Scholar
Fitch, N. and Srolovitz, H. (1976) Severe renal dysgenesis produced by a dominant gene. American Journal of Disease of Children, 130: 1356–1357.Google ScholarPubMed
Fitch, N., Lindsay, J. R. and Srolovitz, H. (1976) The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. Annals of Otology, Rhinology, and Laryngology, 85: 268–275.Google Scholar
Fraser, F. C., Ling, D., Clogg, D. and Nogrady, B. (1978) Genetic aspects of the BOR syndrome-Branchial fistulas, ear pits, hearing loss, and renal anomalies. American Journal of Medical Genetics, 2: 241–252.Google Scholar
Fraser, F. C., Sproule, J. R. and Halal, F. (1980) Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. American Journal of Medical Genetics, 7: 341–349.Google Scholar
Hricak, H., Cruz, C., Romanski, R., Uniewski, M. H., Levin, N. W., Madrazo, B. L., Sandier, M. A. and Eyler, W. R. (1982) Renal parenchimal disease: sonographic-histologic correlation. Radiology, 144: 141–147.CrossRefGoogle Scholar
Melnick, M., Bixler, D., Nance, W. E., Silk, K. and Yune, H. (1976) Familial branchio-oto-renal dysplasia. A new addition to the branchial arch syndromes. Clinical Genetics, 9: 25–34.Google Scholar
Melnick, M., Hodes, M. E., NanceYune, H. Yune, H. and Sweeney, A. (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia; two distinct autosomal dominant disorders. Clinical Genetics, 13: 425–442.Google Scholar
Quick, C. A., Fish, A. and Brown, C. (1973) The relationship between cochlea and kidney. Laryngoscope, 83: 1469–1982.Google Scholar