Document Detail

Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
MedLine Citation:
PMID:  25360518     Owner:  NLM     Status:  Publisher    
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), 2014. © 2014 Wiley Periodicals, Inc.
Silvia Morlino; Marco Castori; Francesca Servadei; Luigi Laino; Evelina Silvestri; ; Paola Grammatico
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-31
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  -     ISSN:  1542-0760     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-31     Completed Date:  -     Revised Date:  2014-11-2    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 Wiley Periodicals, Inc.
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