Hajdu-Cheney syndrome: report of a case.
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.
Ellison
Dale A
DA
Department of Pathology, Arkansas Children's Hospital, Little Rock, AR 72202, USA. ellisondalea@uams.edu
Ellis
Eileen N
EN
Kokoska
Evan R
ER
D002648:Child; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000150:complications / Q000473:pathology* / Q000601:surgery; D006801:Humans; D009392:Nephrectomy; D007690:Polycystic Kidney Diseases / Q000209:etiology / Q000473:pathology* / Q000601:surgery; D051437:Renal Insufficiency / Q000209:etiology / Q000473:pathology* / Q000601:surgery