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四名兄弟姐妹中的肾发育异常、巨膀胱和并腿畸形。

Renal dysplasia, megalocystis, and sirenomelia in four siblings.

作者信息

Selig A M, Benacerraf B, Greene M F, Garber M F, Genest D R

机构信息

Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115.

出版信息

Teratology. 1993 Jan;47(1):65-71. doi: 10.1002/tera.1420470111.

Abstract

First degree relatives of infants with bilateral renal agenesis or dysplasia have an increased risk of renal abnormalities including renal agenesis. We report a family in which four successive offspring exhibited a previously undescribed combination of congenital lethal renal disorders: bilateral renal dysplasia, megalocystis secondary to urethral obstruction and, sirenomelia with associated renal agenesis.

摘要

双侧肾缺如或发育异常婴儿的一级亲属发生包括肾缺如在内的肾脏异常的风险增加。我们报告了一个家族,该家族中连续四个后代表现出一种先前未描述的先天性致命性肾脏疾病组合:双侧肾发育异常、尿道梗阻继发的巨膀胱以及合并肾缺如的并腿畸形序列征。

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