Belengeanu Valerica, Marian Diana, Stana Horia Ademir, Cojocariu Carolina, Popescu Cristina, Lile Ioana Elena
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.
Diagnostics (Basel). 2025 Jan 17;15(2):202. doi: 10.3390/diagnostics15020202.
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.
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。