Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation
- 1 March 1976
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 9 (3) , 324-332
- https://doi.org/10.1111/j.1399-0004.1976.tb01581.x
Abstract
Three sisters and 2 brothers showed osteoporosis of variable severity; the propositus has incapacitating deformities following numerous fractures. Four of the sibs, including 3 with frequent fractures, were blind from infancy ("pseudogliomatous blindness"). In addition, 2 were mentally retarded. The osteoporosis-pseudoglioma syndrome is inherited as an autosomal recessive trait; similar reports from the literature support this assumption.Keywords
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