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X-Linked Recessive Spondyloepiphyseal Dysplasia Tarda Clinical and Radiographic Evolution in a 6-Generation Kindred and Review of the Literature

1 Jan 1999

Abstract excerpt

We characterize the clinical and radiographic evolution of X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) in a 6-generation kindred from Arkansas (SEDT(AK)). Our observations show the natural progression of SEDT(AK) and enable carrier detection by radiographic study. We find that, SEDT(AK) manifests as a postnatal defect. Affected hemizygous males can have radiographically normal vertebrae at birth....

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PMID: 9990351
DOI: 10.1097/00005792-199901000-00002

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