Journal article
Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
Clinical dysmorphology, Vol.15(4), pp.191-196
10/2006
DOI: 10.1097/01.mcd.0000198932.09330.33
PMID: 16957470
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.
Details
- Title: Subtitle
- Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
- Creators
- Gustavo H B Maegawa - The Hospital for Sick Children, Department of Pediatrics, Divisions of Clinical and Metabolic Genetics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, CanadaDavid ChitayatSusan BlaserHilary WhyteMicki ThomasPeter KimJae KimGlen TaylorPatrick J McNamara
- Resource Type
- Journal article
- Publication Details
- Clinical dysmorphology, Vol.15(4), pp.191-196
- DOI
- 10.1097/01.mcd.0000198932.09330.33
- PMID
- 16957470
- ISSN
- 0962-8827
- eISSN
- 1473-5717
- Language
- English
- Date published
- 10/2006
- Academic Unit
- Stead Family Department of Pediatrics; Neonatology; Internal Medicine
- Record Identifier
- 9984093319702771
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