Dysplasia Epiphyseal Multiple: A Case / 대한정형외과학회잡지

ABSTRACT

Dysplasia epiphysealis multiplex is a rare syndrome, first discribed by Fairbank in 1935, but numerous publications have made it a well-recognized entity. The syndrome is caused by a congenital developmental error of unknown etiology, characterized by changes in the developing epiphyses, dwarfism and stubby digits in children of normal intelligence. Diagnosis is mainly by roentgenographic apperences of the epiphyses before fusion to the shaft. The centers of ossification of the epiphyses are late in appearing, slow in developing, deformed in shape and irregular in density. The spine is never affected, blood and biochemicaI studies show no abnormality. A case of dysplasia epiphysealis multiplex which revealed typical roentgenographic pictures is presented with a brief review of a literature.