Spondyloepiphyseal dysplasia.
Skeletal dysplasia with autosomal dominant inheritance was found in four members of one family and in one sporadic case. The syndrome comprises brachydactyly E, platyspondyly, abnormality of the sacroiliac joint, disturbance of metaphyseal modelling, epiphyseal dysplasia, and short stature. This study deals with a particular type of spondyloepiphyseal dysplasia and compares it with similar cases in two previously published papers.
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008875:Middle Aged; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012446:Sacroiliac Joint / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome