Familial occurrence of esophageal atresia with and without tracheoesophagel fistula:Report of two unusual kindreds

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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 ½ 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.