OEIS综合征（脐膨出-泄殖腔外翻-肛门闭锁-脊柱裂）：同胞复发情况
The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs.
作者信息
Smith N M, Chambers H M, Furness M E, Haan E A
机构信息
Department of Pathology, Adelaide Medical Centre for Women and Children, Queen Victoria Hospital, South Australia.
出版信息
J Med Genet. 1992 Oct;29(10):730-2. doi: 10.1136/jmg.29.10.730.
The OEIS complex comprises a combination of defects including omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. It may represent the most severe manifestation of a spectrum of birth defects, the exstrophy-epispadias sequence. The OEIS complex affects 1 in 200,000 to 400,000 pregnancies and is of unknown cause. The purpose of the current report is to document the occurrence of OEIS in sibs from separate pregnancies and suggest that some cases may have a genetic basis.
泄殖腔外翻-肛门闭锁-脊柱裂-脐膨出综合征包括多种缺陷的组合，如脐膨出、泄殖腔外翻、肛门闭锁和脊柱缺陷。它可能是一系列出生缺陷（泄殖腔外翻-尿道上裂序列）中最严重的表现形式。泄殖腔外翻-肛门闭锁-脊柱裂-脐膨出综合征在每20万至40万次妊娠中出现1例，病因不明。本报告的目的是记录来自不同妊娠的同胞中泄殖腔外翻-肛门闭锁-脊柱裂-脐膨出综合征的发生情况，并表明某些病例可能有遗传基础。
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