Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

作者：Hannu Somer, Aarno V. Palotie, Mirja Somer, Veijo Hoikka, Leena Peltonen · 发表于：Journal of Medical Genetics · 年份：1988 · DOI：10.1136/jmg.25.8.543 · 被引用次数：36 · 研究领域：Connective tissue disorders research、Bone health and treatments、Bone and Dental Protein Studies

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.