title: Galloway-Mowat syndrome: a glomerular basement membrane disorder?
abstract: We report a female infant with Galloway-Mowat syndrome. In addition to the characteristic dysmorphic appearance, neurological anomalies and early-onset nephrotic syndrome, she had arachnodactyly, an observation thus far reported uniquely in Taiwan. Also, her elder sister had the same condition. Renal pathology on light microscopy showed cystic dilatation of the renal tubules. Electron microscopy showed an irregular glomerular basement membrane and effacement of foot processes. This observation suggests that malformation of the glomerular basement membrane may cause the glomerulopathy in Galloway-Mowat syndrome.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: C C
authors.initials: CC
authors.lastname: Lin
authors.forename: J D
authors.initials: JD
authors.lastname: Tsai
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: C Y
authors.initials: CY
authors.lastname: Tzen
authors.forename: E Y
authors.initials: EY
authors.lastname: Shen
authors.forename: C S
authors.initials: CS
authors.lastname: Shih
mesh_terms: D001485:Basement Membrane / Q000473:pathology; D002658:Developmental Disabilities / Q000473:pathology*; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D008382:Marfan Syndrome / Q000473:pathology*; D008831:Microcephaly / Q000175:diagnosis / Q000473:pathology*; D009404:Nephrotic Syndrome / Q000473:pathology*; D013577:Syndrome