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1: Pediatr Radiol. 2009 Jan;39(1):47-52. Epub 2008 Sep 25.Click here to read Links

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

Currarino G.

Department of Radiology, Texas Scottish Rite Hospital, 2222 Welborn St., Dallas, TX 75219, USA. guidonellie@mac.com

Six patients who presented with craniofacial anomalies, musculoskeletal anomalies including elongated and bowed (serpentine) fibulae, and polycystic kidneys are reported. This association of anomalies is referred to as serpentine fibula polycystic kidney syndrome (SFPKS) and is currently interpreted as a manifestation of Hajdu-Cheney syndrome (HCS). We report a new instance of this association of anomalies and review the clinical and radiographic features of HCS and of the reported cases of SFPKS.

PMID: 18815778 [PubMed - indexed for MEDLINE]