ICNC Abstracts, ICNC 2018

Font Size: 
Mobius syndrome in four cases and literature review
yang xinying

Last modified: 2018-09-09

Abstract


Objective: To summarize Mobius syndrome (MBS) cases diagnosed in our hospital and reported in China. Try to clarify the clinical characteristics of MBS, and discuss the current diagnosis and treatment status of Mobius syndrome in China, so as to improve the diagnosis and treatment level of this disease.Methods: The clinical data of children with Mobius syndrome diagnosed by Beijing Children's Hospital in Capital Medical University from January 2005 to December 2017 were retrospectively analyzed, and Mobius/Moebius syndrome cases were retrieved and analyzed together.Results: The diagnostic criteria of MBS were "congenital, non-progressive facial nerve and abductor nerve palsy, normal eye vertical movement". With “Mobius syndrome” and “ Moebius syndrome” as the key words, 22 articles/ 25 cases were retrieved in CNKI and Wanfang database,Most of them were case report (a family of 3 cases. There were 19 cases had complete data and conform to the diagnostic criteria,4 cases were diagnosed in our hospital, at last 23 cases were collected. 10 male and 13 female patients, all patients were affected at birth, diagnosed age were 4 days to 62 years. 23 cases with VII and VI cranial nerve palsy; 3/18 cases with ptosis; 5/15 cases had tongue deviation, 6/15 cases with tongue atrophy, 1/15 cases with hypertrophy tongue; 3/13 cases showed chewing weakness;2/10 cases pharyngeal record reflection were disappeared; 2 cases with bilateral hearing impairment. Special appearance included: epicanthus(6/23), lip ectropion(3/23), external auditory canal stenosis, ocular hypertelorism and saddle nose(2/23,respectively), nasal stenosis and small mandible(1/23,respectively). 2 cases showed ectopectoralis absence and ipsilateral upper limb deformity, were diagnosed as Poland-Mobius syndrome, 5 cases with simple upper limb deformity, 3 cases with simple lower limb deformity, 1 case with lordosis. 17/18 cases had sucking and feeding difficulties In infancy. 14/14 cases showed dysarthria . 10/ 14 cases with developmental retardation. MRI examination were normal in 4 cases of our hospital, total exon sequencing was normal in 1 case.Conclusion: MBS is a rare disease with large individual differences in clinical manifestations. The diagnosis is based on VI, VII cranial nerve paralysis.Many systems may be affected, such as limb defects, dysplasia of the chest, feeding difficulties,developmental retardation, behavior and sleep disorders. It is necessary to make a comprehensive and careful assessment of the patients. First, we should pay attention to the clinical practice and improve the understanding of the clinical features of MBS. This article emphasizes the importance of multidisciplinary cooperation and helps early diagnosis and diagnosis and treatment. The genetic diagnosis of MBS can be carried out in the future, which will help some families for  genetic counseling.

Keywords


Mobius syndrome; Moebius syndrome; facial nerve paralysis; abductor nerve paralysis;

Conference registration is required in order to view papers.