Literature DB >> 18001156

Hajdu-Cheney syndrome: report of a case.

Dale A Ellison1, Eileen N Ellis, Evan R Kokoska.   

Abstract

Hajdu-Cheney syndrome is a rare disorder characterized by short stature, joint hypermobility, distinctive craniofacial and skull abnormalities, dental anomalies, and acroosteolysis of the distal phalanges. Cystic kidneys have been associated with some cases. We report a case of a 12-year-old girl with renal failure who underwent bilateral nephrectomies. Histopathological examination revealed polycystic kidneys with numerous nodules located throughout the kidney composed of basaloid epithelial cells.

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Year:  2007        PMID: 18001156     DOI: 10.2350/06-07-0132.1

Source DB:  PubMed          Journal:  Pediatr Dev Pathol        ISSN: 1093-5266


  1 in total

Review 1.  Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

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

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