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.
Similar content being viewed by others
References
Bodian, M., Carter, C. O.: Family study of Hirschsprung's disease. Ann. hum. Genet. 29, 261–277 (1963)
Lowry, R. B.: Hirschsprung's disease and congenital deafness. J. med. Genet. 12, 114–115 (1975)
Madsen, C. M.: Hirschsprung's Disease, pp 46–60. Copenhagen: Munksgaard 1964
McKusick, V. A.: Congenital deafness and Hirschsprung's disease. New Engl. J. Med. 228, 690 (1973)
McKusick, V. A.: Mendelian Inheritance in Man. Baltimore: Johns Hopkins 1975
Passarge, E.: The genetics of Hirschsprung's disease. New Engl. J. Med. 276, 138–143 (1967)
Passarge, E.: Genetic heterogeneity and recurrence risk of congenital intestinal aganglionsis. Birth Defects 8, 63–67 (1972)
Skinner, R., Irvine, D.: Hirschsprung's disease and congential deafness. J. med. Genet. 10, 337–339 (1973)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00527397