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脐膨出、泄殖腔外翻、肛门闭锁和脊柱缺损(OEIS综合征)并伴有体蒂异常(肢体-体壁综合征)的重叠特征。

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).

作者信息

Mandrekar Suresh R S, Amoncar Sangeeta, Banaulikar Siddhartha, Sawant Vishal, Pinto R G W

机构信息

Department of Pathology, Goa Medical College, Bambolim, Goa, India.

Department of Forensic Medicine, Goa Medical College, Bambolim, Goa, India.

出版信息

Indian J Hum Genet. 2014 Apr;20(2):195-8. doi: 10.4103/0971-6866.142906.

Abstract

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.

摘要

泄殖腔外翻-膀胱外翻-脊柱裂-肢体畸形综合征(OEIS)是一种极其罕见的畸形组合,包括脐膨出、泄殖腔外翻、肛门闭锁和脊柱缺损。我们在此报告一例OEIS综合征的尸检结果,该病例除了该综合征的主要畸形外,还伴有双侧马蹄内翻足,即先天性马蹄内翻足、右侧输尿管积水和体蒂异常。脐带缺失,脐血管嵌入羊膜片中,该羊膜片将前体壁缺损的皮肤边缘与胎盘相连,此特征是肢体-体壁复合体(LBWC)的标志。该病例进一步支持了这样一种观点,即OEIS和LBWC代表了一系列连续的异常情况,而非单独的病症,并且可能如一些作者所提出的那样,具有共同的病因和发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/4228575/b9c73dac487d/IJHG-20-195-g001.jpg

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