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

Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):554-66. doi: 10.1002/bdra.23327. Epub 2014 Oct 31.


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.

Keywords: blastogenesis; craniofacial duplication; developmental field; epignathus; frontonasal dysplasia; teratoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Anencephaly / pathology*
  • Cervical Vertebrae / abnormalities*
  • Fetus / pathology*
  • Humans
  • Mouth Abnormalities / pathology*
  • Oropharyngeal Neoplasms / pathology*
  • Syndrome
  • Teratoma / pathology*
  • Terminology as Topic