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duodenal atresia with biliary atresia associated with facial, thyroid and auditory apparatus abnormalities

Saturday 4 August 2007

Synopsis

- dysmorphic facial features
- coarse facial features
- mandibulofacial dysostosis

  • bilateral microtia
  • absence of external auditory meati
  • Mondini dysplasia

- external, middle and internal ear anomalies
- thyroid malformation
- duodenal atresia
- intestinal malrotation
- intrahepatic and extrahepatic biliary atresia

- anterior displacement of the anus (anterior anus)
- left hemiaplasia of the thyroid
- biliary atresia in sibs

References

- Maegawa GH, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, Kim J, Taylor G, McNamara PJ. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? Clin Dysmorphol. 2006 Oct;15(4):191-6. PMID: #16957470#