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
  • 194 Downloads

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.

Keywords

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

Abbreviations

DFA

Distal foregut atresia

EB

Epidermolysis bullosa

References

  1. 1.
    Harris J, Kallen B, Robert E (1995) Descriptive epidemiology of alimentary tract atresia. Teratology 52:15–29PubMedCrossRefGoogle Scholar
  2. 2.
    Aguayo P, Ostlie DJ (2005) Duodenal and intestinal atresia and stenosis. In: Murphy JP, Holcomb GW III (eds) Ashcraft’s pediatric surgery, 5th edn. Elsevier, Amsterdam, pp 400–415Google Scholar
  3. 3.
    Shorter NA, Georges A, Perenyi A, Garrow E (2006) A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia. J Pediatr Surg 41:1822–1825PubMedCrossRefGoogle Scholar
  4. 4.
    Gahukamble DB (1998) Familial occurrence of congenital incomplete prepyloric mucosal diaphragm. J Med Genet 35:1040–1042PubMedCrossRefGoogle Scholar
  5. 5.
    Gahukamble DB, Adnan AR, Al Gadi M (2003) Distal foregut atresias in consecutive siblings and twins in the same family. Pediatr Surg Int 19:288–292PubMedCrossRefGoogle Scholar
  6. 6.
    Mishalany HC, Idriss ZH, Der Kaloustian VM (1978) Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. Pediatrics 62:419–421PubMedGoogle Scholar
  7. 7.
    Bar-Maor JA, Nissan S, Nevo S (1972) Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission. J Med Genet 9:70–71PubMedCrossRefGoogle Scholar
  8. 8.
    Sloop RD, Montague AC (1967) Gastric outlet obstruction due to congenital pyloric mucosal membrane. Ann Surg 165:598–604PubMedCrossRefGoogle Scholar
  9. 9.
    Tandler J (1900) Zur Entwicklungsgeschichte des Menschlichen Duodenum im Fruhen Embryonal Stadien. Geganbaur’s Morph. Jahrbuch 29:187Google Scholar
  10. 10.
    Louw JH, Barnard CN (1955) Congenital intestinal atresia; observations on its origin. Lancet 266:1065–1067CrossRefGoogle Scholar
  11. 11.
    Santulli TV, Blanc WA (1961) Congenital atresia of the intestine: pathogenesis and treatment. Ann Surg 154:939–949PubMedGoogle Scholar
  12. 12.
    Fairbanks TJ, Kanard R, Del Moral PM, Sala FG, De Langhe S, Warburton D, Anderson KD, Bellusci S, Burns RC (2004) Fibroblast growth factor receptor 2 IIIb invalidation—a potential cause of familial duodenal atresia. J Pediatr Surg 39:872–874PubMedCrossRefGoogle Scholar
  13. 13.
    Fourcade L, Shima H, Miyazaki E, Puri P (2001) Multiple gastrointestinal atresias result from disturbed morphogenesis. Pediatr Surg Int 17:361–364PubMedCrossRefGoogle Scholar
  14. 14.
    Puri P, Fujimoto T (1988) New observations on the pathogenesis of multiple intestinal atresias. J Pediatr Surg 23:221–225PubMedCrossRefGoogle Scholar

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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