title: Familial occurrence of esophageal atresia with and without tracheoesophagel fistula: report of two unusual kindreds.
abstract: We describe 2 unique kindreds with familial occurrence of esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) and reviewed the literature on familial EA +/- TEF. EA +/- TEF appears to be causally heterogeneous with evidence pointing to the existence of non-genetic developmental and multifactorial forms. The literature suggests that the parents of a single affected child should be given an empiric recurrent risk between 1/2 and 2%, rising to 20% if more than one sib is affected. The empiric risk of an affected child born to an affected parent is 3-4%. Empiric risk figures are useful in counseling families at the present time; however, the 2 kindreds presented here raise the possibility of autosomal dominant transmission in certain families. A third generation of affected offspring, or additional family reports should help to clarify this issue in the future.
authors.affiliation: Yale University School of Medicine, Department of Human Genetics, New Haven, CT 06510.
authors.forename: B A
authors.initials: BA
authors.lastname: Pletcher
authors.forename: J S
authors.initials: JS
authors.lastname: Friedes
authors.forename: W R
authors.initials: WR
authors.lastname: Breg
authors.forename: R J
authors.initials: RJ
authors.lastname: Touloukian
mesh_terms: D000328:Adult; D004933:Esophageal Atresia / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D012307:Risk Factors; D014138:Tracheoesophageal Fistula / Q000150:complications* / Q000235:genetics