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一例伴有骨骼成熟加速的致死性先天性侏儒症。

A case of lethal congenital dwarfism with accelerated skeletal maturation.

作者信息

Blomstrand S, Claësson I, Säve-Söderbergh J

出版信息

Pediatr Radiol. 1985;15(2):141-3. doi: 10.1007/BF02388725.

Abstract

Details of a female infant, who was born after 29 weeks gestation and who died within minutes of birth, are presented. The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet. Apart from a preductal aortic coarctation the pathological findings were confined to the skeleton. The radiographical and histological findings are described in detail; they differ from those of previous studies of similar conditions.

摘要

本文呈现了一名孕29周出生后几分钟内死亡的女婴的详细情况。该婴儿全身水肿,有巨舌症,四肢非常短小但手脚大小正常。除动脉导管前主动脉缩窄外,病理检查结果仅限于骨骼。详细描述了影像学和组织学检查结果;它们与之前类似病例研究的结果不同。

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