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J Med Genet. Aug 1988; 25(8): 543–549.
PMCID: PMC1080031
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.
H Somer, A Palotie, M Somer, V Hoikka, and L Peltonen
Department of Neurology, University of Helsinki, Finland.
Abstract
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.
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