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水致死综合征:一例罕见先天性疾病病例

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

作者信息

Belengeanu Valerica, Marian Diana, Stana Horia Ademir, Cojocariu Carolina, Popescu Cristina, Lile Ioana Elena

机构信息

Department of Medicine, Faculty of Medicine, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.

Department of Dentistry, Faculty of Dentistry, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.

出版信息

Diagnostics (Basel). 2025 Jan 17;15(2):202. doi: 10.3390/diagnostics15020202.

Abstract

This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn's phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.

摘要

这是一例患有多种复杂先天性异常的致命病例,表现出几种与积水性致死性综合征相符的症状。新生儿的表型特征为多种严重解剖学异常的组合,如脑半球呈书本样裂开、肺叶分叶缺陷(左侧一个肺叶,右侧两个肺叶)、右肾较小、脑表面光滑以及颅底有特定的钥匙孔状缺损,主要与脑积水相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9b1/11765131/5ff5196c712a/diagnostics-15-00202-g001a.jpg

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