Journal
PEDIATRIC RADIOLOGY
Volume 39, Issue 1, Pages 47-52Publisher
SPRINGER
DOI: 10.1007/s00247-008-0992-9
Keywords
Fibula: bowed; serpentine; Hajdu-Cheney syndrome; Polycystic kidney
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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.
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