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2例马库斯·冈恩现象家族病例的临床及电生理研究

[Clinical and electrophysiological study of 2 familial cases of Marcus Gunn phenomenon].

作者信息

Mrabet A, Oueslati S, Gazzah H, Ben Hamida M

机构信息

Service de Neurologie, Institut National de Neurologie, Tunis.

出版信息

Rev Neurol (Paris). 1991;147(3):215-9.

PMID:2063068
Abstract

Two cases of jaw-winking synkinesia or Marcus Gunn (MG) phenomenon are reported, with electromyographic and genetic studies. In the first patient a right eyelid ptosis which had been occurring since birth was associated with a bilateral MG phenomenon confirmed by electromyography. An examination of other family members revealed 3 other cases in the mother's family. The second patient had a congenital left eyelid ptosis associated with an MG phenomenon. His maternal uncle and his mother also had this "jaw-winking" synkinesia. The authors discuss the physiopathology of this complex phenomenon up to now without known neurological lesions. Concerning the genetic aspect of the MG phenomenon, they conclude that in their patients the hereditary pattern was that of an incomplete autosomal dominant trait with varied expressivity in the two families.

摘要

本文报告了两例伴有肌电图和遗传学研究的下颌瞬目综合征或马库斯·冈恩(MG)现象。首例患者自出生起即出现右眼睑下垂,肌电图证实其伴有双侧MG现象。对其他家庭成员的检查发现,其母系家族中还有另外3例。第二例患者患有先天性左眼睑下垂并伴有MG现象。他的舅舅和母亲也有这种“下颌瞬目”综合征。作者讨论了这一复杂现象的生理病理学,目前尚无已知的神经病变。关于MG现象的遗传方面,他们得出结论,在他们的患者中,遗传模式为不完全常染色体显性性状,在两个家族中表现度不同。

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