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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.CD

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.

Authors+Show Affiliations

The Hospital for Sick Children, Department of Pediatrics, Divisions of Clinical and Metabolic Genetics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

16957470

Citation

Maegawa, Gustavo H B., et al. "Duodenal and Biliary Atresia Associated With Facial, Thyroid and Auditory Apparatus Abnormalities: a New Mandibulofacial Dysostosis Syndrome?" Clinical Dysmorphology, vol. 15, no. 4, 2006, pp. 191-6.
Maegawa GH, Chitayat D, Blaser S, et al. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? Clin Dysmorphol. 2006;15(4):191-6.
Maegawa, G. H., 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), 191-6.
Maegawa GH, et al. Duodenal and Biliary Atresia Associated With Facial, Thyroid and Auditory Apparatus Abnormalities: a New Mandibulofacial Dysostosis Syndrome. Clin Dysmorphol. 2006;15(4):191-6. PubMed PMID: 16957470.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? AU - Maegawa,Gustavo H B, AU - Chitayat,David, AU - Blaser,Susan, AU - Whyte,Hilary, AU - Thomas,Micki, AU - Kim,Peter, AU - Kim,Jae, AU - Taylor,Glen, AU - McNamara,Patrick J, PY - 2006/9/8/pubmed PY - 2007/2/21/medline PY - 2006/9/8/entrez SP - 191 EP - 6 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 15 IS - 4 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/16957470/Duodenal_and_biliary_atresia_associated_with_facial_thyroid_and_auditory_apparatus_abnormalities:_a_new_mandibulofacial_dysostosis_syndrome L2 - http://dx.doi.org/10.1097/01.mcd.0000198932.09330.33 DB - PRIME DP - Unbound Medicine ER -