Wolf-Hirschhorn syndrome with improvement of renal function

Giuseppe Zampino, Pietro Ferrara, Alessandro Nicoletti, Valerio Romano, Chiara Leoni, F Del Bufalo, Antonio Gatto

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)1283-1284
Number of pages2
JournalAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume2010
Publication statusPublished - 2010

Keywords

  • Wolf-Hirschhorn syndrome

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