Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome

被引：17
作者：
Kadakia S. [1 ]
Helman S.N. [1 ]
Schwedhelm T. [2 ]
Saman M. [3 ]
Azizzadeh B. [4 ]
机构：
[1] Department of Otolaryngology—Head and Neck Surgery, New York Eye and Ear Infirmary—Mount Sinai Health System, 310 East 14th Street, 6th Floor, New York, 10009, NY
[2] Albert Einstein College of Medicine, Bronx, NY
[3] Department of Otolaryngology—Head and Neck Surgery, Facial Plastic Surgery Associates, Fort Worth, TX
[4] Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA
来源：
Oral and Maxillofacial Surgery | 2015年 / 19卷 / 2期
关键词：
Abducens; Congenital; Diplegia; Facial nerve; Facial paralysis; Moebius;
D O I：
10.1007/s10006-015-0485-6
中图分类号：
学科分类号：
摘要：
Objectives: The molecular underpinnings of Moebius syndrome (MBS) are diverse. This article provides a comprehensive summation of the genetic and etiologic literature underlying this disorder. Elucidating the genetic causes of the disorder can aid in earlier detection and treatment planning. Design: Articles from 1880–2013 were selected and reviewed by six researchers to understand all of the molecular theories and chronicity of advancements in the literature. Results: Mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain. These are among the numerous genes that have been linked to the development of MBS. Conclusion: Our study codified nascent findings of the molecular determinants of MBS. These findings add to a growing database of MBS-associated mutations and can be used to diagnose MBS and clarify pathogenesis. © 2015, Springer-Verlag Berlin Heidelberg.
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收藏
页码：109 / 116
页数：7
相关论文
共 70 条
[1]  
Mobius P.J., Ueber angeborene doppelseitige Abducens-Facialis-Lahmung, Munch Med Wochenschr, 35, 6, pp. 91-94, (1888)
[2]  
Lindsay R.W., Hadlock T.A., Cheney M.L., Upper lip elongation in Möbius syndrome, Otolaryngol Head Neck Surg, 142, pp. 286-287, (2010)
[3]  
Kulkarni A., Madhavi M.R., Nagasudha M., Bhavi G., A rare case of Moebius sequence, Indian J Ophthalmol, 60, 6, pp. 558-560, (2012)
[4]  
Shashikiran N.D., Subba Reddy V.V., Patil R., Moebius syndrome”. A case report, J Indian Soc Pedod Prev Dent, 22, 3, pp. 96-99, (2004)
[5]  
Terzis J.K., Noah E.M., Möbius and Möbius-like patients: etiology, diagnosis, and treatment options, Clin Plast Surg, 29, pp. 497-514, (2002)
[6]  
Verzijl H.T., Valk J., de Vries R., Padberg G.W., Radiological evidence for absence of the facial nerve in Möbius syndrome, Neurology, 64, pp. 849-855, (2005)
[7]  
Verzijl H.T., van der Zwaag B., Cruysber J.R.M., Padberg G.W., Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment, Neurology, 61, pp. 327-333, (2003)
[8]  
Suvarna J., Bagnawar M., Deshmukh C.T., Moebius syndrome with total anomalous pulmonary venous connection, Indian J Pediatr, 73, pp. 53-55, (2006)
[9]  
Caravella R., Rogers G.L., Dextrocardia and ventricular septal defect in the Möbius syndrome, Ann Ophthalmol, 10, 5, pp. 572-575, (1978)
[10]  
Raroque H.G., Hershewe G.L., Snyder R.D., Möbius syndrome and transposition of the great vessels, Neurology, 38, pp. 1894-1895, (1988)
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