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婴儿期全身性动脉钙化——尸体计算机断层扫描和尸检结果

Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy.

作者信息

Bolster Ferdia, Ali Zabiullah, Southall Pamela, Fowler David

机构信息

Office of the Chief Medical Examiner, State of Maryland, 900 West Baltimore Street, Baltimore, MD 21223, USA.

出版信息

Forensic Sci Int. 2015 Sep;254:e7-12. doi: 10.1016/j.forsciint.2015.06.017. Epub 2015 Jun 26.

DOI:10.1016/j.forsciint.2015.06.017
PMID:26165490
Abstract

Generalized arterial calcification in infancy is a rare genetic disorder characterized by abnormal calcification of large and medium sized arteries and marked myointimal proliferation resulting in arterial stenosis. The condition is often fatal secondary to complications of cardiac ischemia, hypertension and cardiac failure. In this report we describe the findings at post mortem computed tomography, histology and autopsy.

摘要

婴儿期全身性动脉钙化是一种罕见的遗传性疾病,其特征为大中型动脉异常钙化以及显著的肌内膜增生,导致动脉狭窄。该病症常因心脏缺血、高血压和心力衰竭的并发症而致命。在本报告中,我们描述了尸体计算机断层扫描、组织学和尸检的结果。

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Children (Basel). 2024 Sep 27;11(10):1176. doi: 10.3390/children11101176.
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Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare Mutation.一例由罕见突变引起的婴儿期全身性动脉钙化患者的临床及分子特征分析
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