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spondyloepiphysial dysplasia


Definition: a group of conditions characterized by growth deficiency of the vertebral column with flattening of the vertebrae or platyspondyly, lack of ossification of the epiphyses, short-trunk dwarfism with limb shortening, and sometimes with other malformations; autosomal dominant [MIM*183900 and MIM*184100], autosomal recessive [MIM*208230 and MIM*271600], and X-linked recessive [MIM*313400] inheritance have been described.

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