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脐膨出的发病率及病因(作者译)

[Incidence and etiology of omphaloceles (author's transl)].

作者信息

Rott H D

出版信息

Z Kinderheilkd. 1975;119(2):133-41.

PMID:124513
Abstract

Omphaloceles are congenital malformations with herniation of the abdominal viscera into the umbilical cord. The incidence in newborns is 1:4300, the sex ratio 1.24:1 in favour to boys. Children with this malformation are neither more frequent at the beginning nor at the end of the sibship; the average maternal age is not increased. In about 50% other different malformations are found. All those omphaloceles, which are found as an obligatory symptom in the EMG syndrome (Wiedemann-Beckwith syndrome) to be probably in most cases autosomal recessively inherited or which are seen within a chromosomal malformation syndrome are of etiologically known origin. Omphaloceles without other malformations are mainly sporadic, less frequent in sibs, possibly due to a polygenic or multifactorial mode of inheritance. Findings in population genetics and animal experiments suggest that exogenous factors, too, can be the cause of malformation syndromes with omphaloceles.

摘要

脐膨出是一种先天性畸形,腹腔脏器通过脐带发生疝出。新生儿中的发病率为1:4300,男女比例为1.24:1,男性居多。患有这种畸形的儿童在同胞关系中既不常见于开始出生的孩子,也不常见于最后出生的孩子;产妇平均年龄并未增加。约50%的患儿还伴有其他不同畸形。所有那些在EMG综合征(威德曼-贝克威思综合征)中作为必然症状出现、可能在大多数情况下为常染色体隐性遗传的脐膨出,或者那些在染色体畸形综合征中出现的脐膨出,其病因是已知的。无其他畸形的脐膨出主要为散发性,在同胞中较少见,可能是由于多基因或多因素遗传模式所致。群体遗传学和动物实验的研究结果表明,外部因素也可能是导致伴有脐膨出的畸形综合征的原因。

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