THE OEIS COMPLEX (OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS) - RECURRENCE IN SIBS

被引:72
作者
SMITH, NM
CHAMBERS, HM
FURNESS, ME
HAAN, EA
机构
[1] QUEEN VICTORIA HOSP, ADELAIDE MED CTR WOMEN & CHILDREN, DEPT PATHOL, ADELAIDE, SA 5067, AUSTRALIA
[2] QUEEN VICTORIA HOSP, DEPT RADIOL, ADELAIDE, AUSTRALIA
[3] QUEEN VICTORIA HOSP, DEPT MED GENET, ADELAIDE, AUSTRALIA
关键词
D O I
10.1136/jmg.29.10.730
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:730 / 732
页数:3
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