| pubmed-article:1501958 | pubmed:abstractText | We report two cases of a platyspondylic lethal osteochondrodysplasia in siblings. The condition affects predominantly the metaphyses of the axial skeleton associated with limb shortening and mild platyspondyly. The radiological and pathological features correlate very closely with Sedaghatian's lethal metaphyseal chondrodysplasia, which has previously been described only in Iranian Nationals. Both the radiological and pathological appearances will be described, together with a discussion of the differential diagnosis, the genetical implications and a review of literature. | lld:pubmed |
