- A dictionary of medical eponyms

Melnick-Fraser syndrome II

Synonyms

BOR syndrome, Branchio-Oto-Renal Syndrome.

Related people

A genetic disorder marked by different kinds of hearing loss, malformed ear pits, neck cysts and kidney problems.

Description

A genetic disorder marked by different kinds of hearing loss, malformed ear pits, neck cysts and kidney problems. Inheritance is autosomal dominant.

Bibliography

  • M. Melnick, David Bixler (born 1929), K. Silk, H. Yune, Walter Elmore Nance (born 1933):
    Autosomal dominant branchiootorenal dysplasia.
    Birth Defects Original Article Series, 1975, 11 (5): 121-128.
  • M. Melnick, D. Bixler, W. E. Nance, K. Silk, H. Yune:
    Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clinical Genetics, Copenhagen, 1976, 9: 25-34.
  • M. Melnick, M. E. Hodes, W. E. Nance, H. Yune, A. Sweeney:
    Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. Clinical Genetics, 1978, 13: 425-442.
  • F. C. Fraser, D. Ling, D. Clogg, B. Nogrady:
    Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.
    American Journal of Medical Genetics, New York, 1978, 2: 241-252.
  • F. C. Fraser,, J. R. Sproule, F. Halal:
    Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.
    American Journal of Medical Genetics, New York, 1980, 7: 341-349.
  • F. C. Fraser, S. Ayme, F. Halal, J. Sproule:
    Autosomal dominant duplication of the renal collection system, hearing loss, and external ear anomalies: a new syndrome.
    American Journal of Medical Genetics, New York, 1983, 14: 473-478.

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