multiple epiphyseal dysplasia


multiple epiphyseal dysplasia
an inherited developmental abnormality of various epiphyses, which appear late and are mottled, flattened, fragmented, and usually hypoplastic; the digits are short and thick, with blunt ends, and stature may be diminished owing to flattening deformities at the hips, knees, and ankles. It can be caused by any of several mutations; most forms are autosomal dominant, but at least one is autosomal recessive; one of the autosomal dominant forms is caused by mutation in the COMP gene and is allelic with pseudoachondroplasia (q.v.). Called also d. epiphysealis multiplex.

Multiple epiphyseal dysplasia. The radiograph shows delayed bone maturation with small carpal centers of ossification and flattened small and fragmented epiphyses.


Medical dictionary. 2011.

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