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

B. A. Pletcher, J. S. Friedes, W. R. Breg, R. J. Touloukian

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)380-384
Number of pages5
JournalAmerican journal of medical genetics
Volume39
Issue number4
DOIs
StatePublished - 1991
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Keywords

  • autosomal dominant
  • esophageal atresia
  • facial anomalies

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