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spondyloepiphyseal dysplasia -- sm

Posted By: Txczech on 2006-03-11
In Reply to: orthopedic help - sm

Subject: spondyloepiphyseal dysplasia -- sm

spondyloepiphyseal dysplasia


 


spondyloepiphyseal dysplasia



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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