Renal tubular dysgenesis: Report of two cases in a non-consanguineous couple and review of the literature

被引：2
|
作者：
Ramalho, C.
Matias, A.
Brandao, O.
Montenegro, N.
机构：
[1] Hosp Sao Joao, Fac Med, Dept Anatomopathol, Oporto, Portugal
[2] Hosp Sao Joao, Ctr Prenatal Diag, Dept Gynecol & Obstet, Oporto, Portugal
来源：
FETAL DIAGNOSIS AND THERAPY | 2007年 / 22卷 / 01期
关键词：
renal tubular dysgenesis; prenatal diagnosis; autosomal recessive; oligohydramnios;
D O I：
10.1159/000095835
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Renal tubular dysgenesis is a rare congenital abnormality of renal development characterized by short and poorly developed proximal convoluted tubules. It is associated to late-appearing oligohydramnios, Potter's sequence, pulmonary hypoplasia and calvarial bone hypoplasia with enlarged fontanels. The onset of oligohydramnios is delayed and variable, normally later than 22 weeks of gestation, conditioning variation in the expression of the other deformities. We report 2 cases of renal tubular dysgenesis occurring in a non-consanguineous couple. Copyright (c) 2007 S. Karger AG, Basel.
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页码：10 / 13
页数：4
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