法医学杂志

法医学杂志 ›› 2016, Vol. 32 ›› Issue (1): 69-72.DOI: 10.3969/j.issn.1004-5619.2016.01.018

• 案例报道 • 上一篇    下一篇

新生儿成骨不全Ⅱ型的尸检和MSCT鉴定1例（英文）

邹冬华，邵  煜，张建华，万  雷，秦志强，刘宁国，黄  平，陈忆九   

  1. （司法部司法鉴定科学技术研究所 上海市法医学重点实验室，上海 200063）
  • 发布日期:2016-02-25 出版日期:2016-02-28

Determination of a Newborn with Lethal Type Ⅱ Osteogenesis Imperfecta and Other Anomalies Using Autopsy and Postmortem MSCT--A Case Report

ZOU DONG-HUA, SHAO YU, ZHANG JIAN-HUA, WAN LEI, QIN ZHI-QIANG, LIU NING-GUO, HUANG PING, CHEN YI-JIU   

  1. （Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Science, Ministry of Justice, P.R.China, Shanghai 200063, China）
  • Online:2016-02-25 Published:2016-02-28
  • Contact: CHEN Yi-jiu, professor, major in forensic pathology; E-mail: chenyj@ssfjd.cn
  • About author:ZOU Dong-hua （1981—）, M.S. major in forensic pathology; E-mail: zoudh@ssfjd.cn

摘要： 本文报道了1例成骨不全（osteogenesis imperfecta，OI）Ⅱ型死胎案例。在妊娠期间胎儿即有颅骨骨折和颅脑损伤。法医尸体检验后，随即进行尸体多层螺旋CT（multi-sliced computed tomography，MSCT）扫描和三维重建。尸检结果显示了OI Ⅱ型的典型特征，包括颅骨变软、四肢畸形、髋关节弯曲和外展及一些异常特征如白色巩膜、髋内翻、部分骨骼和器官缺失、唇裂和两耳不对称。CT检测到的异常变化有腭裂、下颌发育异常、脊柱裂、颈肋、肋骨和椎骨融合，这些都是在常规尸检中难以检测到的。本文阐述了OI的分类、致病性基因突变、死亡原因以及OI与儿童受虐的鉴别，更强调了OI学科知识对法医病理学工作者的重要性和MSCT在法医病理学尸体检验中的价值。

关键词: 法医病理学, 成骨不全, 致死性发育不良, 体层摄影术, 螺旋计算机, 尸体检验

Abstract: A case of a stillbirth with lethal type Ⅱ osteogenesis imperfecta （OI） was reported. The fetus had skull fractures and craniocerebral injuries during pregnancy. Postmortem multi-sliced computed tomography （MSCT） and 3D-reconstruction were performed, followed by a medico-legal autopsy. The autopsic findings showed the typical features of type Ⅱ OI, including a soft calvarium, deformed extremities, flexed and abducted hips, and uncommon features, such as white sclera, coxa vara, absence of several bones and organs, a cleft lip, and asymmetric ears. The radiologic images revealed such anomalies and variations as a cleft palate, mandibular dysplasia, spina bifida, costa cervicalis, and fusion of the ribs and vertebrae, which were difficult to detect during conventional autopsy. The paper investigated the classification, causative mutation, cause of death, and the differentiation of OI from child abuse, coming to a conclusion that OI knowledge can be of great importance to forensic pathologists and that the merits of postmortem MSCT should be emphasized in forensic pathologic examinations.

Key words: forensic pathology, osteogenesis imperfecta, thanatophoric dysplasia, tomography, spiral computed, postmortem examination

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