[Nail-patella syndrome].
The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly. The nephropathy may progress to end-stage renal failure, leading to decreased life expectancy. We report a woman with bilateral hypoplastic thumbnails, who also had aplasia of both patellae and subluxation of the left elbow joint with hypoplasia of the radial head. The mother and the sister of the patient had similar changes and also suffered from nephropathy.
Wildfeuer
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Dermatologische Abteilung, Krankenhauses Spandau, Berlin.
Albrecht
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G
D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D010329:Patella / Q000002:abnormalities / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography