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The nosology of these sporadic disorders is poorly defined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case and Review<\/jats:title><jats:p>We report on a 22\u2010week fetus with a protruding nasopharyngeal teratoma, partial oral duplication, anencephaly, multiple costo\u2010vertebral segmentation defects, and cervical diplomyelia. A review of the literature identified 48 patients published from 1931 to 2013 with co\u2010existing clefting and duplication anomalies of the cephalic pole. Thoracic and abdominal midline anomalies were reported 13 times.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The term \u201ccraniofacial teratoma syndrome\u201d 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\u2013566, 2015. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23327","type":"journal-article","created":{"date-parts":[[2014,10,31]],"date-time":"2014-10-31T13:45:00Z","timestamp":1414763100000},"page":"554-566","source":"Crossref","is-referenced-by-count":11,"title":["Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22\u2010week fetus: A review of the craniofacial teratoma syndrome"],"prefix":"10.1002","volume":"103","author":[{"given":"Silvia","family":"Morlino","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini 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