Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes. (4th April 2013)

• Record Type: Journal Article
• Authors: Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes
• Other Names: Ficicioglu C. Academic Editor.; Nwosu E. C. Academic Editor.; Vaisbuch E. Academic Editor.
• Is Part Of: Case reports in obstetrics and gynecology. Volume 2013(2013)
• Publication Date: 2013-04-04
• Subjects: Obstetrics -- Periodicals; Gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; Obstetrics; Gynecology; Genital Diseases, Female; Generative organs, Female -- Diseases; Gynecology; Obstetrics; Electronic journals; Periodicals; Periodicals; 618
• DOI: 10.1155/2013/203976
• Languages: English
• ISSNs: 2090-6684

Abstract

Abstract : 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.