Literature DB >> 7747781

Cystic kidney disease in Hajdu-Cheney syndrome.

P Kaplan1, F Ramos, E H Zackai, R D Bellah, B S Kaplan.   

Abstract

We report on 2 unrelated patients with Hajdu-Cheney acroosteolysis syndrome, who had cystic kidneys with ultrasonographic changes similar to those of autosomal dominant polycystic kidney disease. Neither had a family history of Hajdu-Cheney syndrome or polycystic kidneys, nor manifestations of any other syndrome. On the basis of the findings in these 2 patients and a review of published cases, we suggest that cystic kidneys are an important component of Hajdu-Cheney syndrome.

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Year:  1995        PMID: 7747781     DOI: 10.1002/ajmg.1320560108

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  [Young woman with back pain and acro-osteolysis].

Authors:  S Schawo; M-A Weber; M Libicher
Journal:  Radiologe       Date:  2006-10       Impact factor: 0.635

2.  Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Authors:  Mary J Gray; Chong Ae Kim; Debora Romeo Bertola; Paula Ricci Arantes; Helen Stewart; Michael A Simpson; Melita D Irving; Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

Review 3.  Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

Authors:  Guido Currarino
Journal:  Pediatr Radiol       Date:  2008-09-25

4.  One-bone forearm procedure for Hajdu-Cheney syndrome: a case report.

Authors:  Abdo Bachoura; Sidney M Jacoby; A Lee Osterman
Journal:  Hand (N Y)       Date:  2013-12
  4 in total

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