Probable autosomal dominant infantile pyloric stenosis in a large kindred.
The proposita was operated on in this hospital in 1980 for pyloric stenosis, at the age of 13 days, after vomiting had started 5 days previously, and the diagnosis had been confirmed on radiological investigation. Her older sister and two male cousins of the father had the same operations in Israel in infancy. The other nine affected individuals in the family were known to have had projectile vomiting for several months in infancy, and two of them died in infancy. They were all born in the Jewish community in Georgia, U.S.S.R. The male:female sex ratio was 2:2 for the operated cases, and 4:5 for those projectile vomiting history. There was no skipping of a generation. This family indicates that pyloric stenosis can exceptionally be inherited as a simple autosomal dominant trait.
D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007585:Jews; D008297:Male; D010375:Pedigree; D011707:Pyloric Stenosis / Q000151:congenital / Q000235:genetics* / Q000601:surgery