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Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome

Background Oropharyngeal teratoma may occur by itself or together with other craniofacial malformations, most commonly cleft palate. Oropharyngeal teratoma may be also seen in association with frontonasal dysplasia and/or various degrees of craniofacial duplication. The nosology of these sporadic di...

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Published in:Birth defects research. A Clinical and molecular teratology 2015-06, Vol.103 (6), p.554-566
Main Authors: Morlino, Silvia, Castori, Marco, Servadei, Francesca, Laino, Luigi, Silvestri, Evelina, Grammatico, Paola
Format: Article
Language:English
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Summary:Background Oropharyngeal teratoma may occur by itself or together with other craniofacial malformations, most commonly cleft palate. Oropharyngeal teratoma may be also seen in association with frontonasal dysplasia and/or various degrees of craniofacial duplication. The nosology of these sporadic disorders is poorly defined. Case and Review We report on a 22‐week fetus with a protruding nasopharyngeal teratoma, partial oral duplication, anencephaly, multiple costo‐vertebral segmentation defects, and cervical diplomyelia. A review of the literature identified 48 patients published from 1931 to 2013 with co‐existing clefting and duplication anomalies of the cephalic pole. Thoracic and abdominal midline anomalies were reported 13 times. Conclusion The term “craniofacial teratoma syndrome” is introduced to define this phenotype as a recognizable developmental field defect of the cephalic pole. Developmental pathogenesis is discussed with a focus on pleiotropy and stereotaxis. The observation of midline findings suggestive of holoprosencephaly in a few previously reported cases suggests a role for the sonic hedgehog signaling pathway in this malformation pattern. Birth Defects Research (Part A) 103:554–566, 2015. © 2014 Wiley Periodicals, Inc.
ISSN:1542-0752
1542-0760
DOI:10.1002/bdra.23327