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spondyloepiphysial dysplasia tarda


Definition: a skeletal dysplasia of later onset, usually in the second decade, characterized by short stature, flattening of the vertebrae, epiphysial involvement with bony fusion of the hip joint, premature osteoarthritis, and distinctive radiographic findings. Autosomal dominant [MIM*184100] and X-linked recessive [MIM*313400] forms exist, which are caused by a mutation in the SEDL gene on Xp.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.