进行性骨干发育不良是一种遗传性全身性骨病,1920年Cockayne首次发现,迄今国外文献报道100多例,国内报道仅18例,伴颅骨缺损者未见报道,现就我院发现的1例报告如下。 男,1 2/12岁。住院号459918。于1991年8月28日因颅缝增宽1年余,双小腿增粗弯曲4个月入院。患儿出生时颅缝较宽,至今未闭,近4月发现小腿增粗,向前弯曲。其父从小有槌状指、趾,无腿痛、跛行、骨骼异常症状。家族中其他亲属无类似病史。体检:前后囟各4cm,矢状缝0.5cm,左右侧枕部各有 Progressive skeletal dysplasia is a hereditary systemic bone disease, Cockayne was first discovered in 1920, so far more than 100 cases reported in foreign literature, only 18 cases reported in the country, with skull defects were not reported, now found in our hospital 1 Examples are as follows. Male, 1 2/12 years old. Hospital number 459918. On August 28, 1991 due to suture widened more than 1 year, double leg thickening bent 4 months admission. Children with cranial suture at birth is wider, so far closed, nearly 4 months found calf thickening, bending forward. His father with a hammer from the finger, toe, leg pain, claudication, abnormal bone symptoms. Other relatives in the family have no similar history. Physical examination: 4cm before and after the bregma, sagittal suture 0.5cm, left and right occiput each have