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

Abstract

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.

• Authors: Guido Currarino
• Journal: Pediatric radiology (Pediatr Radiol) Vol. 39 Issue 1 Pg. 47-52 (Jan 2009) ISSN: 0301-0449 [Print] Germany
• PMID: 18815778 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Child
• Diagnosis, Differential
• Female
• Fibula (abnormalities, diagnostic imaging)
• Hajdu-Cheney Syndrome (complications, diagnostic imaging)
• Humans
• Polycystic Kidney Diseases (complications, diagnostic imaging)
• Radiography
• Ultrasonography