title: A further family with congenital renal proximal tubular dysgenesis.
abstract: A new syndrome of oligohydramnios, Potter's syndrome, and anuric renal failure leading to stillbirth or neonatal death from respiratory failure has recently been described. Histologically, there is renal tubular dysgenesis, especially of the proximal tubules, and apparent glomerular crowding. To date, five families have been reported, in four of which there have been affected sibs and in two parental consanguinity. The disorder is, therefore, thought to be inherited in an autosomal recessive manner.
authors.affiliation: Department of Paediatrics, Charing Cross Hospital, London.
authors.forename: P
authors.initials: P
authors.lastname: MacMahon
authors.forename: R A
authors.initials: RA
authors.lastname: Blackie
authors.forename: M J
authors.initials: MJ
authors.lastname: House
authors.forename: R A
authors.initials: RA
authors.lastname: Risdon
authors.forename: M D
authors.initials: MD
authors.lastname: Crawfurd
mesh_terms: D000328:Adult; D001002:Anuria / Q000151:congenital / Q000401:mortality / Q000473:pathology; D003241:Consanguinity; D005260:Female; D005313:Fetal Death; D005808:Genes, Recessive; D006801:Humans; D007687:Kidney Tubules, Proximal / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome