title: [Nail-patella syndrome].
abstract: In a case report the rare nail-patella-syndrome is presented. Typical and pathognomonic signs are: nail aplasia or dystrophy, iliac horns, hypoplasia or aplasia of the patellae, elbow dysplasia and a nephropathy with electron microscopic demonstrable collagen-like deposition in the glomerular basal membrane. The clinical relevance is determined by the course of the renal disease.
authors.affiliation: Abteilung für Nephrologie, Medizinischen Akademie Carl Gustav Carus Dresden.
authors.forename: B
authors.initials: B
authors.lastname: Rogner
authors.forename: W
authors.initials: W
authors.lastname: Rose
authors.forename: H
authors.initials: H
authors.lastname: Hornak
authors.forename: H G
authors.initials: HG
authors.lastname: Heinrich
mesh_terms: D000328:Adult; D001706:Biopsy; D003094:Collagen / Q000378:metabolism; D005260:Female; D006801:Humans; D006977:Hypertension, Renal / Q000175:diagnosis; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000175:diagnosis*; D008854:Microscopy, Electron; D009261:Nail-Patella Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D003094:Collagen
vernacular_title: Nagel-Patella-Syndrom.