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

Authors
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Volume
39
Issue
4
Pages
380–384
Identifiers
PMID: 1877613
Source
Medline
License
Unknown

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.

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