Kawamura J, Matsubayashi K, Ogawa M
Neuroradiology. 1981;21(5):295-301. doi: 10.1007/BF02100164.
The case of a 24-year-old man with Hadju-Cheney syndrome is reported. No similar disease occurred in his family. Inverted and bullous tips of fingers were noted at age 9 and protruded occipital bone at age 10. He complained on left facial spasm and facial tics for 1 year. Examination revealed a man of short stature, with a brachycephalic skull and hypertelorism. Radiologically there was an extreme degree of basilar impression with the basal angle of 180 degrees, demineralized spinal vertebrae, and acro-osteolysis. Both bone and CT scans demonstrated the abnormalities of the skull clearly. The basilar artery ran almost horizontally on angiography. He gradually deteriorated neurologically with bulbar, pyramidal and cerebellar signs and symptoms. Review of the literature revealed at least ten non-familial and nine familial cases of this disorder. It is considered that this syndrome is a genetically determined generalized dysplastic bone disorder.
报告了一例患有哈朱-切尼综合征的24岁男性病例。其家族中未出现类似疾病。9岁时发现手指尖端倒置和呈大疱状，10岁时发现枕骨突出。他主诉左侧面部痉挛和面部抽搐1年。检查发现该男子身材矮小，头颅短而宽，两眼间距过宽。放射学检查显示存在极度的基底压迹，基底角为180度，脊椎骨脱矿，以及肢端骨质溶解。骨骼和CT扫描均清楚地显示了颅骨的异常。血管造影显示基底动脉几乎呈水平走行。他的神经功能逐渐恶化，出现了延髓、锥体束和小脑的体征和症状。文献回顾显示，该疾病至少有10例非家族性病例和9例家族性病例。认为该综合征是一种由基因决定的全身性发育异常性骨病。
