title: Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.
abstract: We have reviewed the radiographic features of 19 patients with spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL). The salient, diagnostic radiographic manifestations are mild to moderate spondylo-epimetaphyseal dysplasia, progressive infantile kyphoscoliosis, characteristic pelvic, forearm and elbow changes and a highly abnormal bony trabecular pattern. The condition, which is inherited as an autosomal recessive, has only been observed in South Africa among Caucasians, several of whom have German names or German connections. The authors wish to bring the condition to the attention of European radiologists in an attempt to determine the geographic origin of the faulty gene.
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007593:Joint Instability / Q000000981:diagnostic imaging* / Q000235:genetics; D007738:Kyphosis / Q000000981:diagnostic imaging* / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging* / Q000235:genetics; D013019:South Africa; D013577:Syndrome