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

被引:21
作者
Currarino, Guido [1 ]
机构
[1] Texas Scottish Rite Hosp Children, Dept Radiol, Dallas, TX 75219 USA
关键词
Fibula: bowed; serpentine; Hajdu-Cheney syndrome; Polycystic kidney; MELNICK-NEEDLES SYNDROME; DYSPLASIA; VARIANT; ENTITY;
D O I
10.1007/s00247-008-0992-9
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:47 / 52
页数:6
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