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梅比厄斯综合征与脊髓空洞症:一种新关联的描述。

Moebius syndrome and hydrosyringomyelia: description of a new association.

作者信息

Losito Luciana, Gennaro Leonarda, Cacudi Marilena, De Rinaldis Marta, Trabacca Antonio

机构信息

Scientific Institute I.R.C.C.S. Eugenio Medea, La Nostra Famiglia, Unit of Neurorehabilitation I (Developmental Neurology and Functional Rehabilitation), Brindisi Research Centre, Brindisi, Italy.

出版信息

J Child Neurol. 2013 Jun;28(6):801-4. doi: 10.1177/0883073812450946. Epub 2012 Jul 25.

Abstract

The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. Moebius syndrome can be associated with orofacial anomalies and limb malformations. The authors describe a patient with a confirmed diagnosis of Moebius syndrome associated with hydrosyringomyelia. No case of Moebius syndrome involving primarily the spinal cord has been reported so far. This patient did not present with other factors directly linked to syringomyelia.

摘要

默比厄斯综合征是一种罕见的先天性疾病,其诊断主要基于先天性面部及展神经麻痹。其他颅神经受累也较为常见。偶尔,第V、X、XI和XII颅神经会受累,导致咀嚼、吞咽及咳嗽困难,这常引发呼吸系统并发症。在某些病例中还报道有智力发育迟缓及自闭症。默比厄斯综合征可伴有口面部异常及肢体畸形。作者描述了一名确诊为默比厄斯综合征并伴有脊髓空洞症的患者。目前尚未有主要累及脊髓的默比厄斯综合征病例报道。该患者不存在与脊髓空洞症直接相关的其他因素。

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