KMID : 0364519940050020149
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Dong-A Journal Medicine 1994 Volume.5 No. 2 p.149 ~ p.154
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Antenatal Sonographic Diagnosis of Thanatophoric Dysplasia: Report of A Case
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Abstract
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Thanatophoric dysplasia is a lethal skeletal dysplasia characterized by extreme rhizomelia, bowed long bones, normal trunk length but narrow thorax, and a relatively large head. We diagnosed this congenital anomaly using ultrasonography and
confirmed it
by autopsy. The case is presented with a brief review of the literarures.
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