A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern.

Guerra MP; Hrachovy RA; Lugli L; Mizrahi EM; Ferrari F

首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern.

【24h】

A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern.

机译：一种新的致命病例，包括关节挛缩，面部畸形，脑瘫和早发性脑病，并伴有猝发性脑电图。

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Pachygyria, joint contractures and facial abnormalities have been reported in the literature very rarely. These features constitute a new lethal syndrome. We describe a male infant who represents an additional case of the same lethal syndrome first described in 1989. The patient also presented an early-onset epileptic encephalopathy with a suppression-burst EEG pattern.

机译：文献中很少报道过臀肌，关节挛缩和面部异常。这些特征构成了新的致命综合症。我们描述了一个男婴，该男婴代表了同一例致命综合征的另一例病例，该病例最早于1989年描述。该患者还出现了具有突发性EEG模式的早发性癫痫性脑病。

著录项

来源
《European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society》 |2007年第5期|共4页
作者
Guerra MP; Hrachovy RA; Lugli L; Mizrahi EM; Ferrari F;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类儿科学;
关键词
Psychological suppression; Pattern; Encephalopathy; NOS; Joints; Electroencephalography; 关节; 脑电描记术;

机译：Psychological suppression;Pattern;Encephalopathy;NOS;Joints;Electroencephalography;关节;脑电描记术;

相似文献

外文文献
中文文献

1. A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern. [J] . Guerra MP, Hrachovy RA, Lugli L, European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society . 2007,第5期

机译：一种新的致命病例，包括关节挛缩，面部畸形，脑瘫和早发性脑病，并伴有猝发性脑电图。
2. Neonatal suppression-burst without epileptic seizures: Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy [J] . MastrangeloM., PeronA., SpacciniL., Epileptic disorders: international epilepsy journal with videotape . 2013,第1期

机译：无癫痫发作的新生儿抑制性猝发：扩大与STXBP1相关的早发性脑病的电子临床表型
3. High-frequency EEG activity in epileptic encephalopathy with suppression-burst [J] . Toda Yoshihiro, Kobayashi Katsuhiro, Hayashi Yumiko, Brain & Development . 2015,第2期

机译：癫痫性脑病伴抑制性猝发的高频脑电活动
4. Pachygyria joint contractures and facial abnormalities: a new lethal syndrome. [O] . M Tsukahara, Y Sugio, T Kajii, 1990

机译：重症肌无力关节挛缩和面部异常：一种新的致命综合症。
5. Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome. [O] . Tsukahara, M, Sugio, Y, Kajii, T, 1990

机译：重症肌无力，关节挛缩和面部异常：一种新的致命综合症。

A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern.

摘要

著录项

相似文献

相关主题

期刊订阅