Somer H, Palotie A, Somer M, Hoikka V, Peltonen L
Department of Neurology, University of Helsinki, Finland.
J Med Genet. 1988 Aug;25(8):543-9. doi: 10.1136/jmg.25.8.543.
We report a sibship of a sister and brother with osteoporosis-pseudoglioma syndrome. Several other family members became blind or showed signs of bone involvement. There was considerable consanguinity in the pedigree. The proband was small in size and had prominent skeletal deformities and clinical muscle weakness. These features were not present in her brother, suggesting clinical variability. Mental function was normal in both. Bone histology showed osteopenia. Several biochemical events of procollagen biosynthesis were analysed in fibroblast cultures, but no significant abnormalities compared to control fibroblast cultures were detected.
我们报告了一例患有骨质疏松-假性胶质瘤综合征的姐弟。其他几名家庭成员失明或出现骨骼受累迹象。家系中存在相当程度的近亲结婚情况。先证者身材矮小，有明显的骨骼畸形和临床肌肉无力症状。这些特征在她弟弟身上并未出现，提示存在临床变异性。两人的智力功能均正常。骨组织学显示骨质减少。在成纤维细胞培养物中分析了原胶原生物合成的几个生化事件，但与对照成纤维细胞培养物相比未检测到明显异常。
