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首页> 外文期刊>Orphanet journal of rare diseases >Moebius sequence –a multidisciplinary clinical approach
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Moebius sequence –a multidisciplinary clinical approach

机译：Moebius序列–多学科临床方法

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BackgroundMoebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation. Five patients maintained the diagnosis of MS according to the diagnostic criteria. ResultsAll five patients had bilateral facial and abducens paralysis confirmed by ophthalmological examination. Three of five had normal brain MR imaging. Two had missing facial nerves and one had missing abducens nerves. The Strengths and Difficulties Questionnaire (SDQ) showed normal scores in three of five patients. Interestingly, two of five children were born to mothers with uterine abnormalities (unicornuate/bicornuate uterus). In the odontological examination three of five showed enamel hypomineralisation. All five had abnormal orofacial motor function and maxillary prognathism. Two patients had adactyly, syndactyly and brachydactyly. None of the five patients had Poland anomaly, hip dislocation or dysplasia but all had a mild degree of scoliosis. We observed congenital club-feet, calcaneovalgus deformities, macrodactyly of one or more toes or curly toes. Pedobarography showed plantar pressures within normal ranges. ConclusionsAdherence to standard diagnostic criteria is central in the diagnosis of MS. An accurate diagnosis is the basis for correct discussion of other relevant concomitant symptoms of MS, genetic testing and evaluation of prognosis. The multidisciplinary approach and adherence to diagnostic criteria taken in present study increases the knowledge on the relationship between genotype, phenotype and symptomatology of MS.
机译：背景莫比乌斯序列（MS）是一种罕见疾病，由外展畸形和面部神经的双侧先天性瘫痪与各种牙科学，颅面，眼科和骨科疾病共同定义。病因仍然未知;但同时报道了子宫内的遗传（从头突变）和血管事件。本研究的目的是通过多学科临床方法检查被诊断患有莫比乌斯样症状的儿童。十名儿童接受了牙科学，眼科学，产科，儿科，骨科，遗传学，放射学和照相评估。根据诊断标准，五名患者维持了MS的诊断。结果5例患者经眼科检查证实双侧面部和外展肌麻痹。五分之三的大脑MR影像正常。两人缺少面神经，一人缺少外展神经。优势与困难问卷（SDQ）在五名患者中有三名的得分正常。有趣的是，五个孩子中有两个是子宫异常（单角/双月子宫）的母亲所生。在牙科学检查中，五分之三显示牙釉质矿化不足。所有这五个人的口腔颌面运动功能异常和上颌前突。两名患者有手，触及近距。五名患者中没有一例患有波兰异常，髋关节脱位或发育不良，但均患有轻度的脊柱侧弯。我们观察到先天性马蹄内翻足，足趾外翻畸形，一个或多个脚趾或脚趾大趾畸形。气压计显示足底压力在正常范围内。结论坚持标准诊断标准是MS诊断的核心。准确的诊断是正确讨论MS其他相关伴随症状，基因检测和评估预后的基础。本研究采用的多学科方法和对诊断标准的依从性增加了对MS基因型，表型和症状之间关系的认识。

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