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Wolf–Hirschhorn syndrome with improvement of renal function


  • How to cite this article: Ferrara P, Del Bufalo F, Nicoletti A, Romano V, Gatto A, Leoni C, Zampino G. 2010. Wolf–Hirschhorn syndrome with improvement of renal function. Am J Med Genet Part A 152A:1283–1284.


Wolf–Hirschhorn syndrome (WHS) is a chromosomal disorder characterized by partial deletion of the short arm of chromosome 4. We describe a girl with a de novo unbalanced traslocation t(4;7)(p16.2;p22), associated with a mild version of a classical WHS phenotype. She did not present major urinary tract abnormalities but had parenchymal hyperechogenicity at renal ultrasound at the birth with normal renal scintigraphy. She had also a reduction of GFR with elevated levels of blood urea nitrogen and serum potassium until the age of 6 months. We followed the patient with periodic clinical examination and laboratory and radiological investigations and observed at the age of 5 years a normal renal ultrasound without parenchymal hyperechogenicity. © 2010 Wiley-Liss, Inc.