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Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature

Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital...

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Autores principales: Kajiwara, Kazuhiro, Tanemoto, Tomohiro, Nagata, Chie, Okamoto, Aikou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989077/
https://www.ncbi.nlm.nih.gov/pubmed/27579201
http://dx.doi.org/10.1155/2016/8512351
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author Kajiwara, Kazuhiro
Tanemoto, Tomohiro
Nagata, Chie
Okamoto, Aikou
author_facet Kajiwara, Kazuhiro
Tanemoto, Tomohiro
Nagata, Chie
Okamoto, Aikou
author_sort Kajiwara, Kazuhiro
collection PubMed
description Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment.
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spelling pubmed-49890772016-08-30 Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature Kajiwara, Kazuhiro Tanemoto, Tomohiro Nagata, Chie Okamoto, Aikou Case Rep Obstet Gynecol Case Report Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment. Hindawi Publishing Corporation 2016 2016-08-04 /pmc/articles/PMC4989077/ /pubmed/27579201 http://dx.doi.org/10.1155/2016/8512351 Text en Copyright © 2016 Kazuhiro Kajiwara et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kajiwara, Kazuhiro
Tanemoto, Tomohiro
Nagata, Chie
Okamoto, Aikou
Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature
title Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature
title_full Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature
title_fullStr Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature
title_full_unstemmed Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature
title_short Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature
title_sort prenatal diagnosis of isolated agnathia-otocephaly: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989077/
https://www.ncbi.nlm.nih.gov/pubmed/27579201
http://dx.doi.org/10.1155/2016/8512351
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