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Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis—a rare association

Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fuse...

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Bibliographic Details
Published in:Clinical and experimental nephrology 2009-10, Vol.13 (5), p.531-532
Main Authors: Gupta, Ankur, Khaira, Ambar, Lal, Charanjit, Mahajan, Sandeep, Tiwari, Suresh C.
Format: Article
Language:English
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Summary:Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fused ectopic kidneys. Renal biopsy showed focal segmental glomerulosclerosis. Oral steroids were instituted and she responded well. The case highlights this novel renal presentation of Noonan syndrome.
ISSN:1342-1751
1437-7799
DOI:10.1007/s10157-009-0183-5