Autosomal recessive syndrome of pseudogliomantous blindness, osteoporosis and mild mental retardation.
We report a sibship of three sisters and two brothers who showed osteoporosis of variable severity; the propositus has incapacitating deformities following numerous fractures. Four of the sibs, including three with frequent fractures, were blind from infancy ("pseudogliomatous blindness"). In addition, two were mentally retarded. The osteoporosis-pseudoglioma syndrome is inherited as an autosomal recessive trait; similar reports from the literature support this assumption.
D001766:Blindness / Q000151:congenital / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010024:Osteoporosis / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome