Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes
Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2013/203976 |
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| author | Daniela Cardoso Pereira Luiz Claudio Silva Bussamra Edward Araujo Júnior Carolina Leite Drummond Luciano Marcondes Machado Nardozza Antonio Fernandes Moron José Mendes Aldrighi |
| author_facet | Daniela Cardoso Pereira Luiz Claudio Silva Bussamra Edward Araujo Júnior Carolina Leite Drummond Luciano Marcondes Machado Nardozza Antonio Fernandes Moron José Mendes Aldrighi |
| author_sort | Daniela Cardoso Pereira |
| collection | DOAJ |
| description | Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis. |
| format | Article |
| id | doaj-art-6c9f3a2376e84e22999f09e0e17e147d |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-6c9f3a2376e84e22999f09e0e17e147d2025-02-03T05:46:11ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922013-01-01201310.1155/2013/203976203976Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis SyndromesDaniela Cardoso Pereira0Luiz Claudio Silva Bussamra1Edward Araujo Júnior2Carolina Leite Drummond3Luciano Marcondes Machado Nardozza4Antonio Fernandes Moron5José Mendes Aldrighi6Department of Obstetrics and Gynecology, School of Medical Sciences, Santa Casa de São Paulo (FCMSCSP), São Paulo, SP, BrazilDepartment of Obstetrics and Gynecology, School of Medical Sciences, Santa Casa de São Paulo (FCMSCSP), São Paulo, SP, BrazilDepartment of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber 956, Apartamento, 113 Visage, Vila Leopoldina, 05303-000 São Paulo, SP, BrazilDepartment of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber 956, Apartamento, 113 Visage, Vila Leopoldina, 05303-000 São Paulo, SP, BrazilDepartment of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber 956, Apartamento, 113 Visage, Vila Leopoldina, 05303-000 São Paulo, SP, BrazilDepartment of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber 956, Apartamento, 113 Visage, Vila Leopoldina, 05303-000 São Paulo, SP, BrazilDepartment of Obstetrics and Gynecology, School of Medical Sciences, Santa Casa de São Paulo (FCMSCSP), São Paulo, SP, BrazilTreacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.http://dx.doi.org/10.1155/2013/203976 |
| spellingShingle | Daniela Cardoso Pereira Luiz Claudio Silva Bussamra Edward Araujo Júnior Carolina Leite Drummond Luciano Marcondes Machado Nardozza Antonio Fernandes Moron José Mendes Aldrighi Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes Case Reports in Obstetrics and Gynecology |
| title | Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes |
| title_full | Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes |
| title_fullStr | Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes |
| title_full_unstemmed | Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes |
| title_short | Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes |
| title_sort | prenatal diagnosis of treacher collins syndrome using three dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes |
| url | http://dx.doi.org/10.1155/2013/203976 |
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