Spondyloepiphyseal dysplasia.

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Abstract
Skeletal dysplasia with autosomal dominant inheritance was found in 4 members of 1 family and in 1 sporadic case. The syndrome comprises brachydactyly E, platyspondyly, abnormality of the sacroiliac joint, disturbance of metaphyseal modeling, epiphyseal dysplasia and short stature. This study deals with a particular type of spondyloepiphyseal dysplasia and compares it with similar cases in 2 previously published papers.