Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases

Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.