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一例罕见的合并脐膨出、膀胱外翻、肛门闭锁及脊柱缺损综合征的生殖器畸形尸检结果

A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings.

作者信息

Mamatha K, Yelikar B R, Deshpande Varsha R, Disha B S

机构信息

Assistant Professor, Department of Pathology, BLDEU's Shri B.M. Patil Medical College, Vijayapur, Karnataka, India.

Professor and Head, Department of Pathology, BLDEU's Shri B.M. Patil Medical College, Vijayapur, Karnataka, India.

出版信息

J Clin Diagn Res. 2017 Jul;11(7):ED37-ED38. doi: 10.7860/JCDR/2017/28277.10307. Epub 2017 Jul 1.

Abstract

Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4 week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases. In severe cases, termination of pregnancy is considered. A primigravida with 28 weeks of gestation had delivered a live baby with multiple congenital anomalies; baby died after 10 minutes. These anomalies were grouped under OEIS complex.

摘要

脐膨出、泄殖腔外翻、肛门闭锁和脊柱缺陷(OEIS)是泄殖腔外翻-尿道上裂序列的一种严重表现,伴有包括OEIS在内的多种缺陷组合。它是由于妊娠第4周时胚胎发育过程中胚层形成缺陷,导致前腹壁闭合不当以及泄殖腔和泌尿生殖隔发育异常所致。通过胎儿尸检识别这种复杂病症很重要,因为这种情况可能在兄弟姐妹中复发。产前诊断在病情较轻的病例中通过适当管理也有助于预防胎儿死亡。在严重病例中,则考虑终止妊娠。一名妊娠28周的初产妇分娩了一名患有多种先天性异常的活婴;婴儿在10分钟后死亡。这些异常被归类为OEIS综合征。

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本文引用的文献

1
OEIS complex associated with chromosome 1p36 deletion: a case report and review.
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The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs.
J Med Genet. 1992 Oct;29(10):730-2. doi: 10.1136/jmg.29.10.730.

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