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[梅比厄斯综合征。临床病例报告]

[Moebius syndrome. Clinical case report].

作者信息

Palmer-Morales Yusvisaret, Zárate-Márquez Rosario Elena, Prince-Vélez Roberto, González-Méndez Roberto, Zamarripa-Sandoval Thania Ayerim, Verdugo-Salazar Nahim, Torres-Félix Victor Gabriel, Salcido-Daniel Remigio, Valdez-Hernández Pedro, Morfín-Vela Andrés

机构信息

Coordinación de Enseñanza e Investigación en Salud, Hospital de Gineco-Pediatría, Unidad de Medicina Familiar 31, Instituto Mexicano del Seguro Social (IMSS), Mexicali, Baja California, Mexico.

出版信息

Rev Med Inst Mex Seguro Soc. 2013 Sep-Oct;51(5):584-6.

Abstract

BACKGROUND

Moebius syndrome (MBS) is an infrequent disease, having an incidence of 1 in 10,000 births, mainly characterized by a congenital bilateral facial paralysis due to an agenesia of the sixth and seventh cranial nerves. In addition, orofacial and limb anomalies are frequently found in these patients. The diagnosis is fundamentally based on different clinical manifestations of the disorder.

CLINICAL CASE

a female newborn with the clinical picture of Moebius syndrome is presented, and genetic or environmental aspects are discussed. Since the use of misoprostol for abortion and inducing uterine activity in combination with NSAIDs, the number of newborns with MBS associated with this drug has increased. Nowadays, either genetic or environmental factors are associated with MBS.

CONCLUSIONS

it is necessary that the general and medical community be aware of the risk of teratogenic effects of misoprostol, and the usefulness of genetic counseling whenever there is a newborn with Moebius syndrome.

摘要

背景

默比厄斯综合征(MBS)是一种罕见疾病,发病率为万分之一,主要特征是由于第六和第七颅神经发育不全导致先天性双侧面瘫。此外,这些患者常伴有口面部和肢体异常。诊断主要基于该疾病的不同临床表现。

临床病例

介绍了一名患有默比厄斯综合征临床表现的女新生儿,并讨论了遗传或环境因素。自从使用米索前列醇与非甾体抗炎药联合用于堕胎和诱发子宫活动以来,与该药物相关的患有MBS的新生儿数量有所增加。如今,遗传或环境因素都与MBS有关。

结论

普通大众和医学界有必要了解米索前列醇致畸作用的风险,以及当有新生儿患有默比厄斯综合征时遗传咨询的作用。

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