Radiologic findings of epiphyseal metaphyseal dysplasia developed in one family

Lim, D R; Shin, H J

Abstract

The spondyloepiphseal dysplasia are chondrodystrohpies with selective and combine invovlement of vertebrae andlong bone epiphyses and metaphses. It is rare familial disease and transmitted autosomal dominant except X-linkedrecessive in SED tarda form. The SED is classified by roentgenographic and clinical evaluation. Three principlegroups are distinguished; Ephiphyseal dysplasia, Epiphyseal Dysplasia with platyspondyly, and Epiphseal Metaphsealdysplasia. Author present 3 cases of epiphseal metaphyseal dysplasia without spine involvement which developed inone family. Roentgenogram reveals characteristic bilateral symmetric epiphyseal and metaphseal irregularity,micromelic drawfism, short and thick diaphses, and stubby hands and feet.