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

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2007

Autores

ramalho, c (Autor) Outra; matias, a (Autor) FMUP; Brandao, O (Autor) Outra; Montenegro, N (Autor) Outra

Revista

Título: Fetal Diagnosis and Therapy

Vol. 22

Páginas: 10-13

ISSN: 1015-3837

Editora: Karger

Indexação

ISI Web of Knowledge - 2 Citações

Scopus - 3 Citações

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4