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洛里综合征首例病例的尸检。

Necropsy of original case of Lowry's syndrome.

作者信息

Dolman C L, Wright V J

出版信息

J Med Genet. 1978 Jun;15(3):227-9. doi: 10.1136/jmg.15.3.227.

Abstract

The necropsy findings are reported on one of the original sibs of Lowry's syndrome. The child, who died at 7 years of bronchopneumonia, was severely dwarfed, microcephalic, and microphthalmic. The brain was small and extensively calcified, the cerebellar cortex hypoplastic, and the retinae atrophic. There were multiple skeletal and integumental and minor renal abnormalities. The lymphoid tissue was much reduced, and many arteries and arterioles were thickened and narrowed. This constitutes a unique constellation of lesions.

摘要

对洛里综合征最初的一个同胞患儿进行了尸检报告。该患儿7岁时死于支气管肺炎,严重矮小、小头畸形且小眼畸形。脑体积小且广泛钙化,小脑皮质发育不全,视网膜萎缩。存在多处骨骼、皮肤及轻微肾脏异常。淋巴组织大量减少,许多动脉和小动脉增厚且狭窄。这构成了一组独特的病变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62e9/1013683/6bcf26036c7e/jmedgene00298-0063-a.jpg

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