Document Detail

Oesophageal atresia in the South West of England.
MedLine Citation:
PMID:  1121014     Owner:  NLM     Status:  MEDLINE    
A retrospective anatomical and family study was made of 345 patients with oesophageal atresia who were born in the South West of England between 1942 and 1973. There were 186 males and 159 females. Twenty-one cases were stillborn. Eighty-five percent of the patients had a combination of oesophageal atresia with a tracheo-oesophageal fistula to the distal oesophageal segment, and 9 percent had atresia without a fistula. Fifty-five per cent of the patients had other congenital malformations and these tended to be multiple rather than single. Thirty-six per cent of singletons had unequivocal fetal growth retardation, and there is some evidence that nearly all cases have poor fetal growth. There appeared to be a maternal age effect, with an excess of mothers under 20 and over 35, and there was an unexplained excess of fathers employed in the Armed Forces. Ten per cent of the cases were illegitimate. There were 21 twins which is nearly three times the expected number; there were two pairs of twins concordant for oesophageal atresia, one being monozygotic and the other dizygotic. In one case there were two sibs with oesophageal atresia. Five out of 365 sibs had anencephaly. The blood group distributions of the patients and their mothers did not significantly differ from the expected distribution. Oesophageal atresia is aetiologically heterogenous. In this series there were at least five, and probably 10 cases of trisomy 18 and four cases of trisomy 21. Five mothers had overt diabetes, and there is some suggestion from other work that maternal diabetes or its treatment may be aetiologically important. Oesophageal atresia was part of a possibly recessively inherited malformation syndrome in two cases. A sibship with a case of rectal atresia, a case of Hirschprung's disease and a case of oesophageal atresia may represent the action of another recessive gene. It seems likely that oesophageal atresia is a rather non-specific consequence of several teratological processes.
T J David; S E O'Callaghan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  12     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1975 Mar 
Date Detail:
Created Date:  1975-06-25     Completed Date:  1975-06-25     Revised Date:  2010-09-09    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1-11     Citation Subset:  IM    
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MeSH Terms
ABO Blood-Group System
Abnormalities, Multiple / genetics
Birth Order
Birth Weight
Diseases in Twins
Esophageal Atresia / complications,  epidemiology*,  genetics
Infant, Newborn
Maternal Age
Pregnancy in Diabetics
Tracheoesophageal Fistula / complications,  genetics
Reg. No./Substance:
0/ABO Blood-Group System

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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