title: Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Morlino
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.affiliation: Unit of Fetal and Neonatal Pathology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Servadei
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Laino
authors.affiliation: Unit of Fetal and Neonatal Pathology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Evelina
authors.initials: E
authors.lastname: Silvestri
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000757:Anencephaly / Q000473:pathology*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D005333:Fetus / Q000473:pathology*; D006801:Humans; D009056:Mouth Abnormalities / Q000473:pathology*; D009959:Oropharyngeal Neoplasms / Q000473:pathology*; D013577:Syndrome; D013724:Teratoma / Q000473:pathology*; D009626:Terminology as Topic
keywords: blastogenesis; craniofacial duplication; developmental field; epignathus; frontonasal dysplasia; teratoma