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Hirschsprung's disease and congenital deafness

Familial Association

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Summary

A family is described showing deafness in three consecutive generations. Hirschsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The association of the two disorders in this family may be due to a single autosomal dominant gene and in this regard differs from previously reported isolated patients with Hirschsprung's disease and deafness.

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References

  • Bodian, M., Carter, C. O.: Family study of Hirschsprung's disease. Ann. hum. Genet. 29, 261–277 (1963)

    Google Scholar 

  • Lowry, R. B.: Hirschsprung's disease and congenital deafness. J. med. Genet. 12, 114–115 (1975)

    Google Scholar 

  • Madsen, C. M.: Hirschsprung's Disease, pp 46–60. Copenhagen: Munksgaard 1964

    Google Scholar 

  • McKusick, V. A.: Congenital deafness and Hirschsprung's disease. New Engl. J. Med. 228, 690 (1973)

    Google Scholar 

  • McKusick, V. A.: Mendelian Inheritance in Man. Baltimore: Johns Hopkins 1975

    Google Scholar 

  • Passarge, E.: The genetics of Hirschsprung's disease. New Engl. J. Med. 276, 138–143 (1967)

    Google Scholar 

  • Passarge, E.: Genetic heterogeneity and recurrence risk of congenital intestinal aganglionsis. Birth Defects 8, 63–67 (1972)

    Google Scholar 

  • Skinner, R., Irvine, D.: Hirschsprung's disease and congential deafness. J. med. Genet. 10, 337–339 (1973)

    Google Scholar 

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Authors and Affiliations

  1. Departments of Pathology and Pediatrics, The University of Texas Health Science Center and Children's Medical Center, Dallas, Texas, USA

    Arthur G. Weinberg

  2. Department of Radiology and Pediatrics, The University of Texas Health Science Center and Children's Medical Center, Dallas, Texas, USA

    Guido Currarino

  3. Austin, Texas, USA

    Abraham M. Besserman

Authors
  1. Arthur G. Weinberg
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  2. Guido Currarino
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  3. Abraham M. Besserman
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Weinberg, A.G., Currarino, G. & Besserman, A.M. Hirschsprung's disease and congenital deafness. Hum Genet 38, 157–161 (1977). https://doi.org/10.1007/BF00527397

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  • DOI: https://doi.org/10.1007/BF00527397

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