Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: A new mandibulofacial dysostosis syndrome?

Gustavo H.B. Maegawa, David Chitayat, Susan Blaser, Hilary Whyte, Micki Thomas, Peter Kim, Jae Kim, Glen Taylor, Patrick J. McNamara

Research output: Contribution to journalArticle

Abstract

We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malrotation, anterior displacement of the anus, left hemiaplasia of the thyroid and biliary atresia in sibs. The associations of duodenal atresia with intrahepatic and extrahepatic biliary atresia in sibs have been reported, suggesting an autosomal recessive syndrome. However, the associated external, middle and internal ear anomalies and the thyroid malformation, however, have not been reported in this condition. To the best of our knowledge, this is a hitherto new syndrome with an unknown inheritance.

Original languageEnglish (US)
Pages (from-to)191-196
Number of pages6
JournalClinical Dysmorphology
Volume15
Issue number4
DOIs
StatePublished - Oct 1 2006

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Keywords

  • Anal defect
  • Biliary atresia
  • Duodenal atresia
  • Microtia
  • Mondini dysplasia
  • Thyroid

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

Cite this

Maegawa, G. H. B., Chitayat, D., Blaser, S., Whyte, H., Thomas, M., Kim, P., Kim, J., Taylor, G., & McNamara, P. J. (2006). Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: A new mandibulofacial dysostosis syndrome? Clinical Dysmorphology, 15(4), 191-196. https://doi.org/10.1097/01.mcd.0000198932.09330.33