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唐氏综合征死亡案例中的法医问题。

Forensic issues in Down syndrome fatalities.

作者信息

Byard Roger W

机构信息

Discipline of Pathology, Level 3 Medical School North Building, The University of Adelaide, Frome Road, Adelaide 5005, Australia.

出版信息

J Forensic Leg Med. 2007 Nov;14(8):475-81. doi: 10.1016/j.jflm.2007.01.001. Epub 2007 Mar 26.

Abstract

Down syndrome, or trisomy 21, is the most common chromosomal abnormality associated with intellectual impairment. Premature death is a feature of the syndrome due to a wide variety of conditions including congenital heart disease, impaired immune responses resulting in respiratory infections, acute leukaemia, upper airway narrowing, pulmonary hypertension, Alzheimer disease and atlantoaxial instability. Cases of Down syndrome not uncommonly present for medicolegal autopsy, as the non-specificity of symptoms and signs often precludes accurate antemortem establishment of a cause of death. Manifestations of Down syndrome are reviewed with an analysis of possible mechanisms of death and findings at autopsy.

摘要

唐氏综合征,即21三体综合征,是与智力障碍相关的最常见染色体异常疾病。由于多种病症,包括先天性心脏病、导致呼吸道感染的免疫反应受损、急性白血病、上呼吸道狭窄、肺动脉高压、阿尔茨海默病和寰枢椎不稳,过早死亡是该综合征的一个特征。唐氏综合征病例常因法医学尸检而被发现,因为症状和体征的非特异性往往使得生前难以准确确定死因。本文回顾了唐氏综合征的临床表现,并分析了可能的死亡机制和尸检结果。

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