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

• Type: Another Publication in an International Scientific Journal
• Date: 2007

Authors

ramalho, c (Author) Other; matias, a (Author) FMUP; Brandao, O (Author) Other; Montenegro, N (Author) Other

Journal

Title: Fetal Diagnosis and Therapy

Vol. 22

Pages: 10-13

ISSN: 1015-3837

Publisher: Karger

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 3 Citations

Other information

Authenticus ID: P-004-D52

DOI: 10.1159/000095835

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4