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一例在孕早期诊断出的坎特雷尔综合征病例。

A case of Cantrell syndrome diagnosed in the first trimester.

作者信息

Delibaş I B, Isaoğlu Ü, Tanriverdi E Ç, Yilmaz M

出版信息

Clin Exp Obstet Gynecol. 2016;43(4):612-613.

Abstract

Here, the authors report a case of Cantrell's syndrome which was diagnosed by ultrasound at 12th week of pregnancy and confirmed by autopsy. Cantrell syndrome/pentalogy is defined as congenital combination of five main distinctive components: defects at the lower part of the sternum, anterior diaphragm, midline supraumbilical abdominal wall, diaphragmatic pericardium, and ectopia cordis. In the present case, in addition to these anomalies, there was cleft palate and cleft lip at the midline. Association of cleft lip and palate with Cantrell's syndrome may be due to the extension of defective migration of mesodennal primordial structures, which is mainly in abdomen and thorax, towards facial structures. Therefore, in prenatal diagnosis facial anomalies should be examined carefully in all cases with Cantrell syndrome.

摘要

在此,作者报告了一例坎特雷尔综合征病例,该病例在妊娠12周时通过超声诊断,并经尸检证实。坎特雷尔综合征/五联症被定义为五种主要独特成分的先天性组合:胸骨下部缺损、前膈、脐上中线腹壁、膈心包和心脏异位。在本病例中,除了这些异常外,中线处还有腭裂和唇裂。唇腭裂与坎特雷尔综合征的关联可能是由于中胚层原始结构(主要在腹部和胸部)向面部结构的缺陷性迁移延伸所致。因此,在产前诊断中,所有坎特雷尔综合征病例都应仔细检查面部异常情况。

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