title: Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.
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.
authors: Department of Obstetrics and Gynecology, School of Medical Sciences, Santa Casa de São Paulo (FCMSCSP), São Paulo, SP, Brazil.
authors: Daniela Cardoso
authors: DC
authors: Pereira
authors: Luiz Claudio Silva
authors: LC
authors: Bussamra
authors: Edward
authors: E
authors: Araujo Júnior
authors: Carolina Leite
authors: CL
authors: Drummond
authors: Luciano Marcondes Machado
authors: LM
authors: Nardozza
authors: Antonio Fernandes
authors: AF
authors: Moron
authors: José Mendes
authors: JM
authors: Aldrighi
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