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三例Cantrell五联症的产前诊断,其中两例伴有脊柱裂头畸形。

Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis.

作者信息

Polat Ibrahim, Gül Ahmet, Aslan Halil, Cebeci Altan, Ozseker Bülent, Caglar Bahar, Ceylan Yavuz

机构信息

Maternal and Fetal Unit, Istanbul Bakirkoy Women's and Children's Hospital, Istanbul, Turkey.

出版信息

J Clin Ultrasound. 2005 Jul-Aug;33(6):308-11. doi: 10.1002/jcu.20134.

DOI:10.1002/jcu.20134
PMID:16134161
Abstract

In this report, we describe 3 cases of pentalogy of Cantrell diagnosed prenatally with sonography. All 3 fetuses had an omphalocele and ectopia cordis; 2 of them also had craniorachischisis, in which the open cranial defect (anencephaly or exencephaly) is continuous with the completely open spine (spinal dysraphism). The association of the pentalogy of Cantrell with exencephaly is rare, and to our knowledge, the association of this syndrome with craniorachischisis has not been reported previously. In addition, 2 of our cases had clubfoot, and 1 of them also had clubhand, neither of which has been reported previously in association with the pentalogy of Cantrell. Finally, polyhydramnios, which occurred in 2 of our cases, has been reported to occur in association with that syndrome in only 1 previous case. We believe that sonographers should be aware that these anomalies may occur simultaneously with the classic anomalies of the pentalogy of Cantrell.

摘要

在本报告中,我们描述了3例经超声产前诊断为Cantrell五联症的病例。所有3例胎儿均有脐膨出和心脏异位;其中2例还患有颅脑脊柱裂,即开放性颅骨缺损(无脑儿或脑膨出)与完全开放的脊柱(脊柱裂)相连。Cantrell五联症与脑膨出的关联罕见,据我们所知,该综合征与颅脑脊柱裂的关联此前尚未见报道。此外,我们的2例病例有马蹄内翻足,其中1例还有并指(趾)畸形,此前均未见与Cantrell五联症相关的报道。最后,我们的2例病例出现羊水过多,此前仅有1例报道该综合征伴有羊水过多。我们认为超声检查人员应意识到这些异常可能与Cantrell五联症的典型异常同时出现。

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J Clin Ultrasound. 2005 Jul-Aug;33(6):308-11. doi: 10.1002/jcu.20134.
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