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先天性脊柱骨髓发育不良征(spondyloepiphyseal dysplasia congenitasyndrome)为常染色体显性遗传病,1966年由Spranger和Wiedemann首先报道,由于本综合征国内报告不多,对其认识较少,往往造成误诊。我院发现一例,现报告如下。
Spondyloepiphyseal dysplasia congenitasis is an autosomal dominant disease. It was first reported by Spranger and Wiedemann in 1966 that misdiagnosis is often caused because there are not many reports on this syndrome in our country. A case of our hospital found, the report is as follows.