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Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
Morlino, Silvia; Castori, Marco; Servadei, Francesca; Laino, Luigi; Silvestri, Evelina; Grammatico, Paola.
Afiliação
  • Morlino S; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Castori M; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Servadei F; Unit of Fetal and Neonatal Pathology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy.
  • Laino L; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Silvestri E; Unit of Fetal and Neonatal Pathology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy.
  • Grammatico P; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Birth Defects Res A Clin Mol Teratol ; 103(6): 554-66, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25360518
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Teratoma / Anormalidades Múltiplas / Neoplasias Orofaríngeas / Vértebras Cervicais / Feto / Anencefalia / Anormalidades da Boca Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Teratoma / Anormalidades Múltiplas / Neoplasias Orofaríngeas / Vértebras Cervicais / Feto / Anencefalia / Anormalidades da Boca Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article