title: Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
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.affiliation: The Hospital for Sick Children, Department of Pediatrics, Divisions of Clinical and Metabolic Genetics Diagnostic Imaging Neonatal Intensive Care Unit Paediatric Surgery Pathology The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Gustavo H B
authors.initials: GHB
authors.lastname: Maegawa
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Hilary
authors.initials: H
authors.lastname: Whyte
authors.forename: Micki
authors.initials: M
authors.lastname: Thomas
authors.forename: Peter
authors.initials: P
authors.lastname: Kim
authors.forename: Jae
authors.initials: J
authors.lastname: Kim
authors.forename: Glen
authors.initials: G
authors.lastname: Taylor
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: McNamara
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001656:Biliary Atresia / Q000473:pathology*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000473:pathology*; D008342:Mandibulofacial Dysostosis / Q000473:pathology*; D013577:Syndrome; D013961:Thyroid Gland / Q000002:abnormalities*