In a patient with fronto-metaphyseal dysplasia, progressive joint deformities and osteolytic changes in the carpal bones observed suggest that this condition is a "heritable disorder of connective tissue." Metachromatic granules were demonstrated in cultured fibroblastic cells.
Danks DM, Mayne V, Hall RK, McKinnon MC. Fronto-metaphyseal Dysplasia: A Progressive Disease of Bone and Connective Tissue. Am J Dis Child. 1972;123(3):254–258. doi:10.1001/archpedi.1972.02110090124022
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