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1: Pediatr Dev Pathol. 2007 Nov-Dec;10(6):470-6.Click here to read Links

Hajdu-Cheney syndrome: report of a case.

Ellison DA, Ellis EN, Kokoska ER.

Department of Pathology, Arkansas Children's Hospital, Little Rock, AR 72202, USA. ellisondalea@uams.edu

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.

PMID: 18001156 [PubMed - indexed for MEDLINE]