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PMID: 8088301 Published · ppublish English Case Reports Journal Article

Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

European journal of pediatrics ·Vol. 153 ·No. 6 ·1994-06-00 ·Pages 446-50

König R, Fuchs S, Dukiet C

Abstract

A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.

MeSH Terms
Abnormalities, Multiple/genetics Branchial Region/abnormalities Ear/abnormalities Female Humans Infant Kidney/abnormalities Pedigree Syndrome
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
König R
Institut für Humangenetik, Frankfurt/Main, Germany.
Fuchs S
Dukiet C
References (35)
35 references, click to expand
  1. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.
    Am J Med Genet. 1987 May;27(1):233 PMID: 3605200
  2. Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
    Clin Genet. 1978 May;13(5):425-42 PMID: 657583
  3. The BOR syndrome as a possible neurocristopathy.
    Ear Nose Throat J. 1987 Apr;66(4):154-8 PMID: 3582212
  4. Gustatory lacrimation in association with the branchio-oto-renal syndrome.
    Clin Genet. 1985 May;27(5):506-9 PMID: 4006277
  5. Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.
    Am J Med Genet. 1992 Aug 1;43(6):970-5 PMID: 1415348
  6. Familial hearing loss associated with branchial fistulas.
    Pediatrics. 1969 Dec;44(6):978-85 PMID: 5365063
  7. Autosomal dominant branchiootorenal dysplasia.
    Birth Defects Orig Artic Ser. 1975;11(5):121-8 PMID: 1218203
  8. Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.
    Clin Genet. 1990 May;37(5):347-50 PMID: 2354548
  9. External ear malformations: epidemiology, genetics, and natural history.
    Birth Defects Orig Artic Ser. 1979;15(9):i-ix, 1-140 PMID: 393325
  10. The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.
    Am J Med Genet. 1983 Apr;14(4):625-7 PMID: 6846397
  11. Localization of the gene for branchiootorenal syndrome to chromosome 8q.
    Genomics. 1992 Dec;14(4):841-4 PMID: 1478663
  12. Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.
    Hum Mol Genet. 1992 Oct;1(7):491-5 PMID: 1307249
  13. Autosomal dominant first and second branchial arch syndrome. A new inherited syndrome?
    Birth Defects Orig Artic Ser. 1974;10 (7):31-40 PMID: 4424226
  14. The BOR syndrome and renal agenesis--prenatal diagnosis and further clinical delineation.
    Prenat Diagn. 1988 Feb;8(2):103-8 PMID: 3283716
  15. Otological aspects of the earpit-deafness syndrome.
    ORL J Otorhinolaryngol Relat Spec. 1981;43(4):223-39 PMID: 6973119
  16. Renal disorders in the branchio-oto-renal syndrome.
    Helv Paediatr Acta. 1983 Dec;38(5-6):513-22 PMID: 6668201
  17. The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.
    Ann Otol Rhinol Laryngol. 1976 Mar-Apr;85(2 pt.1):268-75 PMID: 1083706
  18. Hemifacial microsomia and the branchio-oto-renal syndrome.
    J Craniofac Genet Dev Biol Suppl. 1985;1:287-95 PMID: 3877103
  19. Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?
    Am J Med Genet. 1983 Mar;14(3):473-8 PMID: 6859100
  20. The earpits-deafness syndrome. Clinical and genetic aspects.
    Int J Pediatr Otorhinolaryngol. 1980 Nov;2(4):309-22 PMID: 6964893
  21. Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.
    Am J Med Genet. 1983 Jan;14(1):135-8 PMID: 6829601
  22. Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.
    Clin Genet. 1976 Jan;9(1):25-34 PMID: 1248162
  23. Hereditary deafness in family with ear-pits (fistula auris congenita).
    Br Med J. 1955 Dec 3;2(4952):1354-6 PMID: 13269867
  24. New autosomal dominant branchio-oculo-facial syndrome.
    Am J Med Genet. 1987 Aug;27(4):943-51 PMID: 3321995
  25. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.
    Am J Med Genet. 1980;7(3):341-9 PMID: 7468659
  26. The relationship between cochlea and kidney.
    Laryngoscope. 1973 Sep;83(9):1469-82 PMID: 4128106
  27. Severe renal dysgenesis produced by a dominant gene.
    Am J Dis Child. 1976 Dec;130(12):1356-7 PMID: 998578
  28. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.
    Am J Med Genet. 1986 Sep;25(1):15-27 PMID: 3799714
  29. Hereditary congenital cholesteatoma. A variant of branchio-oto dysplasia.
    Arch Otolaryngol Head Neck Surg. 1986 Oct;112(10):1097-100 PMID: 3755982
  30. Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.
    Am J Med Genet. 1978;2(3):241-52 PMID: 263442
  31. The neural crest in abnormalities of the face and brain.
    Birth Defects Orig Artic Ser. 1975;11(7):1-18 PMID: 813792
  32. Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
    Am J Med Genet. 1989 Apr;32(4):490-4 PMID: 2773990
  33. Glomerular lesions in the branchio-oto-renal (BOR) syndrome.
    Int J Pediatr Nephrol. 1982 Jun;3(2):67-70 PMID: 7107121
  34. Inner ear and renal diseases.
    Ann Otol Rhinol Laryngol Suppl. 1984 Jul-Aug;112:119-24 PMID: 6431869
  35. Familial incidence of bifid and double ureters.
    Arch Dis Child. 1974 May;49(5):390-3 PMID: 4834020
Article Info
Journal
European journal of pediatrics
Abbr.
Eur J Pediatr
ISSN
0340-6199
DOI
10.1007/BF01983410
Published
1994-06-00
Pages
446-50
Language
English
Region
Germany
NLM ID
7603873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF01983410 View journal details
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