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J Med Genet. 1980 December; 17(6): 411–415.
PMCID: PMC1885913

The grandchildren of patients with pyloric stenosis


Of 138 grandchildren of patients, four had pyloric stenosis confirmed at Ramstedt's operation. For the four categories of grandchildren of male index patients the proportion affected was 0/27, 1/17, 1/41, and 0/35 for sons' sons, sons' daughters, daughters' sons, and daughters' daughters, respectively. For the four categories of grandchildren of female index patients the proportion affected was 0/5, 1/3, 0/5, and 1/5, respectively. Though numbers are small certain findings are noteworthy. The relatively high risk to the relatives of female index patients appears even more marked in the grandchildren than the children. The grandchildren of male index patients show the sharp decrease in proportion affected that one would expect with a multifactorial threshold model, but of the few grandchildren born so far to female index patients, as many are affected as the children. In only one of the four instances was the affected grandchild born to an affected child. There is no support for the hypothesis that the higher risk to the children of female index patients is the result of a direct maternal effect on the developing fetus.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Carter CO, Evans KA. Inheritance of congenital pyloric stenosis. J Med Genet. 1969 Sep;6(3):233–254. [PMC free article] [PubMed]
  • Kidd KK, Spence MA. Genetic analyses of pyloric stenosis suggesting a specific maternal effect. J Med Genet. 1976 Aug;13(4):290–294. [PMC free article] [PubMed]

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