Familial congenital esophageal atresia. Personal case report and review of the literature

Hum Genet. 1984;66(2-3):260-6. doi: 10.1007/BF00286613.


Esophageal atresia with or without tracheoesophageal fistula (EA +/- TEF) usually occurs sporadically either as an isolated malformation or in conjunction with other congenital anomalies. Seventy-six familial cases are recorded in the literature. Two personal cases are additionally reported. An overview of the 33 pedigrees with familial occurrence of EA is presented. All available data of relevance for genetic analysis are compiled in eight tables. Attention is given to possible heterogeneity between sporadic and familial and between isolated and associated EA. Guidelines for genetic counseling are presented. With exception of the cases where EA is part of a chromosomal or of a known monogenic or teratogenic syndrome, the recurrence risks fit into a multifactorial scheme.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics
  • Child, Preschool
  • Diseases in Twins*
  • Esophageal Atresia / genetics*
  • Female
  • Gene Frequency
  • Genetic Counseling
  • Humans
  • Infant
  • Intestinal Atresia / genetics
  • Male
  • Pedigree
  • Risk