Osteochondrodystrophia Deformans with Mucopolysaccharidosis
Open Access
- 1 February 1965
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 40 (209) , 106-110
- https://doi.org/10.1136/adc.40.209.106
Abstract
A family with increased urinary excretion of acid mucopolysaccharides is described. In 2 of the cases radiological changes in the spine were found, like those of Morquio-Brails-ford''s disease, though the clinical appearances of the patients are normal. Bone biopsy from one of the 2 patients showed increasec content of acid mucopolysaccharides. Even mild forms of Morquio-Brailsford''s disease are due to an inborn error of metabolism as in Morquio-Ullrich''s disease and gargoylism.Keywords
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