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管理被诊断患有莫比乌斯综合征的儿童:远非表面所见那么简单。

Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.

作者信息

McKay Victoria H, Touil Leila L, Jenkins Dagan, Fattah Adel Y

机构信息

Department of Clinical Genetics, Cheshire and Merseyside Regional Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, UK.

Regional Paediatric Burns and Plastic Surgery Service, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.

出版信息

Arch Dis Child. 2016 Sep;101(9):843-6. doi: 10.1136/archdischild-2015-310043. Epub 2016 Feb 11.

Abstract

Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown this to be a dominant disorder in a subset of patients. Accurate diagnosis and management by a multidisciplinary team with expertise in congenital facial palsy is paramount.

摘要

莫比乌斯综合征(MBS)是一种先天性、非进行性的面部及展神经麻痹,垂直凝视功能正常,可能伴有肢体异常和颅面畸形。MBS现被定义为菱脑发育异常性疾病,最近的基因研究发现,在部分患者中这是一种显性疾病。由具备先天性面瘫专业知识的多学科团队进行准确诊断和管理至关重要。

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