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