title: Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature.
abstract: 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.
authors.affiliation: Center of Prenatal Diagnosis, Department of Gynecology and Obstetrics, Medical Faculty of Porto, Hospital S. João, Porto, Portugal. carla.ramalho@iol.pt
authors.forename: C
authors.initials: C
authors.lastname: Ramalho
authors.forename: A
authors.initials: A
authors.lastname: Matias
authors.forename: O
authors.initials: O
authors.lastname: Brandão
authors.forename: N
authors.initials: N
authors.lastname: Montenegro
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007687:Kidney Tubules, Proximal / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D016104:Oligohydramnios / Q000209:etiology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000235:genetics