Väestöliitto, The Family Federation of Finland, Department of Medical Genetics, Helsinki, Finland.
Am J Med Genet A. 2011 Mar;155A(3):595-8. doi: 10.1002/ajmg.a.33510. Epub 2011 Feb 18.
Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS.
哈杰-切尼综合征(HCS)是一种常染色体显性遗传疾病,包括末端指骨的溶骨性破坏、特征性颅面异常、牙齿异常和匀称性身材矮小。临床和放射学表现随年龄增长而发展和进展。在这里,我们报告了一例 HCS 患者,伴有严重的脊柱侧凸和异常巨大的硬脑膜膨出。先天性脊柱侧凸和硬脑膜膨出以前在 HCS 中没有报道过。