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Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

机译：用三维超声检查和鉴别诊断与其他型血液缺损综合征的胎儿诊断产前诊断

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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.

机译：传染师 - 柯林斯综合征（TCS）是一种罕见的常常血型异常，由第一和第二鳃拱的发展的畸形或破坏。它的特征是微观差异，颧乳腺发育不全和眼睛和耳朵的畸形。使用二维超声检查（2DU）的产前诊断的特征在于与多络合物一起识别面部畸形。三维超声检查（3DUS）具有在空间上显示这些面部畸形的能力，从而使父母很容易理解它们。我们展示了使用3DU诊断的TCS，使用3DU，使用颅骨计算机断层扫描和解剖病理分析进行后期确认。

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Daniela Cardoso Pereira; Luiz Claudio Silva Bussamra; Edward Araujo Júnior; Carolina Leite Drummond; Luciano Marcondes Machado Nardozza; Antonio Fernandes Moron; José Mendes Aldrighi;
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年度 2013
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1. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes [J] . Daniela CardosoPereira, Luiz Claudio SilvaBussamra, EdwardAraujo Júnior, Case Reports in Obstetrics and Gynecology . 2013,第1期

机译：三维超声检查对Treacher-Collins综合征的产前诊断，并与其他Acrofacial Dysostosis综合征进行鉴别诊断
2. Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes. [J] . Ghosh S, Setty S, Sivakumar A, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontics . 2007,第5期

机译：新综合症的报告：集中于鉴别诊断和对Ellis-van Creveld，Curry-Hall，肢端发育不良和口面数字综合症的回顾。
3. Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography [J] . Sayo Kubo, Takashi Horinouchi, Masahiro Kinoshita, Taiwanese journal of obstetrics and gynecology . 2019,第4期

机译：子宫内的视觉诊断：使用3D / 4D超声检查对Treacher-Collins综合征进行产前诊断
4. A 3D Deep Residual Convolutional Neural Network for Differential Diagnosis of Parkinsonian Syndromes on ¹⁸F-FDG PET Images [C] . Yu Zhao, Ping Wu, Jian Wang, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2019

机译：用于^{18 F-FDG PET图像帕金森综合征鉴别诊断的3D深度残差卷积神经网络}
5. Information and Resources Provided to Patients Receiving a Prenatal Diagnosis of Down Syndrome as Reported by Health Care Professionals [D] . King, Annette Marie 2012

机译：根据卫生保健专业人员的报告，向患有唐氏综合症产前诊断的患者提供的信息和资源
6. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes [O] . Daniela Cardoso Pereira, Luiz Claudio Silva Bussamra, Edward Araujo Júnior, 2013

机译：三维超声检查对特雷尔-柯林斯综合征的产前诊断并与其他Acrofacial Dysostosis综合征进行鉴别诊断
7. Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement [O] . Carrie A. Couyoumjian, Marjorie C. Treadwell, Mason Barr 2008

机译：腹腔疼痛性缺血性缺陷的产前超声诊断与单侧上肢参与

Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

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