目的 分析中国新生儿Mobius综合征的临床特点和研究进展。方法 检索自建库至2018-03中国期刊全文数据、万方数据库、维普数据库和Pubmed数据库,查阅公开发表的Mobius综合征病例报告,对符合标准的中文文献进行整理,提取颅神经受累、其他部位异常、染色体检查、头颅磁共振检查、母亲孕期情况、出生时情况、家族史等内容进行分析,总结中国有关Mobius综合征的临床特征、遗传特征和治疗进展。结果 共筛选中文文献33篇,有效病例43例(男24例,女19例),全部罹患先天性面瘫,同时合并双眼球内斜、外展运动受限(43例);伴有其他颅神经受累最常见的是:30.23%合并第Ⅻ对颅神经受累(13例),13.95%合并第Ⅲ、Ⅷ、Ⅸ、Ⅹ对颅神经受累(6例)。合并其他身体异常,最多见的是:手指(足趾)异常(27.90%,12例),胸廓及胸肌的异常(23.25%,10例),颌面口腔牙齿畸形(20.93%,9例)。43例患者中,18例行头颅MRI检查,3例有阳性发现;17例行染色体检查结果均正常;9例母亲在早孕期有先兆流产、流产失败、上呼吸道感染、用药或者X线接触病史;2例有家族史记载。结论 Mobius综合征是以先天性面肌瘫痪及双眼外展障碍为主要表现的少见的先天性异常,该病的治疗主要是局部的正畸治疗,神经肌肉移植手术取得了一定的进展,而多学科合作、综合干预,防止患者出现心理和行为模式的异常,也是至关重要的。
Abstract
Objective To investigate the clinical characteristics and research progress of Mobius syndrome in newborns.Methods China Journal Full-text Database (CNKI), Wanfang Database (WAN-FANGDATA), VIP Database (CQVIP) and Pubmed Database were searched for related literature that was published between the inception of these databases and March 2018 with such key words as facial paralysis, abducens nerve paralysis and congenital abnormalities. Literature in Chinese that met the inclusion criteria was also collected, and data on cranial nerve damage, abnormalities in other parts of the body, chromosome examination, head MRI examination, abnormalities during pregnancy, delivery and family history was classified and analyzed. Clinical characteristics as well as treatment and prognosis of Mobius syndrome reported in China were analyzed.Results Thirty-three Chinese reports on this syndrome were retrieved and 43 patients(24 males and 19 females) were considered valid. All the patients had symptoms of congenital facial paralysis and abducens nerve paralysis at the same time. What was affected included cranial pairs Ⅵ and Ⅶ, hypoglossal nerve (Ⅻ) pairs (13 cases, 30.23%), oculomotor nerves (Ⅲ), auditory nerves (Ⅷ) , glossopharyngeal nerves (Ⅸ) and vagus or pneumogastric nerves(Ⅹ) (6 cases, 13.95%), trigeminal nerves(Ⅴ) (2 cases, 4.65%). There was no evidence that the olfactory (Ⅰ)and optic nerves (Ⅱ) had been affected by any anomaly in the report we gathered. Magnetic resonance imaging was performed in 18 cases, and 3 cases had positive findings.The result of chromosome analysis in 17 cases was normal. Eight mothers had threatened abortion, abortion failure, colds, medication or X-ray exposure history in early pregnancy. Two cases had family history records. There were few studies with long-term follow-up in China.Conclusions Mobius syndrome is characterized by congenital facial paralysis and strabismus and limitations of eye movement,usually accompanied by other anomalies. There is no effective medical treatment or cure for Mobius Syndrome. Treatment should aim at reduction of symptoms and remain multidisciplinary, with the participation of different health professionals. Identification and intervention should be carried out earlier so as to ensure good outcomes.
关键词
面神经麻痹 /
外展神经麻痹 /
畸形 /
先天性
Key words
facial paralysis /
abducens nerve paralysis /
congenital abnormalities /
literature analysis
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