Etiological study on isolated esophageal atresia.

A study group of 160 index patients with isolated esophageal atresia, a control group of 160 matched healthy controls, and the first-degree relatives of patients and controls were examined; epidemiological, family planning, teratological, and genetic data were obtained by personal interview in the study and control groups. One half of the index patients were male. Intrauterine growth retardation, a higher proportion of mothers under 19 or over 30 years of age, and less skilled professions of the parents were found in the study group. There were more extramarital conceptions, more pregnancies in spite of the use of contraceptive pills, and more delayed conceptions in index patients' mothers. The teratogens studied did not have an obvious pathological effect here. The sib occurrence of isolated esophageal atresia was 0.43%, which did not correspond too well to the expected figure of 1.34% based on the polygenic model.