Moebius sequence –a multidisciplinary clinical approach
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- 作者：Line Kjeldgaard Pedersen ; Rikke Damkjær Maimburg…
- 关键词：Moebius Sequence ; Rare Disease ; Children ; Multidisciplinary Approach
- 刊名：Orphanet Journal of Rare Diseases
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：12
- 期：1
- 全文大小：3764KB
- 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Human Genetics;
- 出版者：BioMed Central
- ISSN：1750-1172
- 卷排序：12
文摘
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.