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.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Maegawa GH,Chitayat D,Blaser S,Whyte H,Thomas M,Kim P,Kim J,Taylor G,McNamara PJdoi
10.1097/01.mcd.0000198932.09330.33subject
Has Abstractpub_date
2006-10-01 00:00:00pages
191-6issue
4eissn
0962-8827issn
1473-5717pii
00019605-200610000-00001journal_volume
15pub_type
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