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无颌-头面部联胎畸形:二维和三维超声及磁共振成像产前诊断。病例报告。

Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report.

作者信息

Hisaba Wagner Jou, Milani Hérbene José Figuinha, Araujo Júnior Edward, Passos Jurandir Piassi, Barreto Enoch Quinderé Sá, Carvalho Natália Silva, Helfer Talita Micheletti, Pares David Batista Silva, Nardozza Luciano Marcondes Machado, Moron Antonio Fernandes

机构信息

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo-SP, Brazil.

出版信息

Med Ultrason. 2014 Dec;16(4):377-9. doi: 10.11152/mu.201.3.2066.164.wjh1.

Abstract

A case of prenatally diagnosed otocephaly is reported. Otocephaly is an extremely rare malformation characterized by absence or hypoplasia of the mandible and abnormal horizontal position of the ears. 2D ultrasound performed at 25 weeks of gestation revealed agnathia, proboscis and hypotelorism. 3D ultrasound (rendering mode) and magnetic resonance imaging were used to evaluate the facial features, and were essential for characterization of facial malformations in otocephaly and for the demonstration and correct prenatal counseling of the couple.

摘要

本文报告了一例产前诊断为耳头畸形的病例。耳头畸形是一种极为罕见的畸形,其特征为下颌骨缺失或发育不全以及耳朵水平位置异常。妊娠25周时进行的二维超声检查显示无下颌、鼻状突起和眼距过窄。使用三维超声(渲染模式)和磁共振成像来评估面部特征,这对于耳头畸形面部畸形的特征描述以及向这对夫妇进行演示和正确的产前咨询至关重要。

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