Spondylometaphyseal dysplasia, type VII

Abstract

Spondylometaphyseal dysplasia was first described by Kozlowski et al. in 1967 as a new dysplastic bone disease, characterized by metaphyseal dysplasia associated with generalized platyspondyly in the vertebral column [1]. Kozlowski et al. have pointed out the autosomal dominant transmission of this disorder at that time. However, later reports showed that the manner of genetic transmission and the degree of the manifestation of the radiological findings could be variable and accordingly seven types of spondylometaphyseal dysplasia were described [2]. In this article, three cases displaying one of the rare forms of spondylometaphyseal dysplasia, "type VII" are presented and the diagnostic findings as well as the differential diagnostic criteria are discussed.