Pediatric Surgery International

, Volume 28, Issue 11, pp 1151–1155 | Cite as

Familial distal foregut atresia in a family with likely autosomal dominant inheritance pattern

  • Ian Robinson
  • Harinder Gill
  • Li Yen Ng
  • Roisin Hayes
Case Report


Familial occurrence of distal foregut atresia (DFA) (Type 1) is rare. Diagnosis is based upon the clinical symptomatology and confirmed by radiological studies, surgery and histology. A number of reports have described families in which several family members have been involved and suggested an autosomal recessive mode of inheritance. Little is known about the underlying genetic causes or indeed the likely pathogenic mechanism. We report a family in which there are five affected cases including three siblings where the DFA appears to be inherited in an autosomal dominant inheritance pattern with reduced penetrance.


Chromosome disorders Duodenum Duodenal obstruction Genes Dominant Humans Infant Newborn Intestinal atresia/genetics Pyloric antrum Pylorus 



Distal foregut atresia


Epidermolysis bullosa



We would like to thank the family for their participation in our study.

Conflict of interest

The authors have no conflicts of interest relevant to this article to disclose.


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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Ian Robinson
    • 1
  • Harinder Gill
    • 2
  • Li Yen Ng
    • 2
  • Roisin Hayes
    • 1
  1. 1.Department of RadiologyOur Lady’s Children’s HospitalCrumlin, DublinIreland
  2. 2.Department of Medical GeneticsOur Lady’s Children’s HospitalCrumlin, DublinIreland

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