Abstract
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.
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Abbreviations
- DFA:
-
Distal foregut atresia
- EB:
-
Epidermolysis bullosa
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We would like to thank the family for their participation in our study.
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The authors have no conflicts of interest relevant to this article to disclose.
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Robinson, I., Gill, H., Ng, L.Y. et al. Familial distal foregut atresia in a family with likely autosomal dominant inheritance pattern. Pediatr Surg Int 28, 1151–1155 (2012). https://doi.org/10.1007/s00383-012-3157-8
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DOI: https://doi.org/10.1007/s00383-012-3157-8