[Nail-patella syndrome].
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.
Rogner
B
B
Abteilung für Nephrologie, Medizinischen Akademie Carl Gustav Carus Dresden.
Rose
W
W
Hornak
H
H
Heinrich
H G
HG
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
D003094:Collagen
Nagel-Patella-Syndrom.