The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Möbius syndrome redefined: A syndrome of rhombencephalic maldevelopment
Abstract
OBJECTIVE: To investigate the variable clinical picture of Möbius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Möbius syndrome. All underwent standardized neurologic examination with special attention to cranial nerve functions, motor skills, and facial and limb anomalies. RESULTS: Of 37 patients with facial paresis, 97% had bilateral and 3% had unilateral ocular abduction weakness. Further analysis showed isolated abducens nerve palsy in 9%, a conjugated horizontal gaze paresis in 48%, features of Duane retraction syndrome in 34%, and congenital fibrosis of the extraocular muscles in 9%. Other signs included lingual involvement (77%), dysfunction of palate and pharynx (56%), general motor disability (88%), poor coordination (83%), and respiratory abnormalities (19%). CONCLUSION: Möbius syndrome is more than a cranial nerve or nuclear developmental disorder. It is a syndrome of rhombencephalic maldevelopment involving predominantly motor nuclei and axons, as well as traversing long tracts. The authors also noted gaze palsies, Duane retraction syndrome, feeding and respiratory problems, and poor motor development, suggesting a regional developmental disorder.
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Cites
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R. (2001) · Science · doi:10.1126/science.1063525 · Cited by 655
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Goldberg, A. B., Greenberg, M. B., & Darney, P. D. (2001) · New England Journal of Medicine · doi:10.1056/nejm200101043440107 · Cited by 450
Okihiro syndrome is caused by SALL4 mutations
Kohlhase, J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.23.2979 · Cited by 320
Gonzalez, C. H., Marques-Dias, M. J., Kim, C. A., Sugayama, S. M., Da Paz, J. A., Huson, S. M., & Holmes, L. B. (1998) · The Lancet · doi:10.1016/s0140-6736(97)12363-7 · Cited by 277
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
Nakano, M., Yamada, K., Fain, J., Sener, E. C., Selleck, C. J., Awad, A. H., Zwaan, J., Mullaney, P. B., Bosley, T. M., & Engle, E. C. (2001) · Nature Genetics · doi:10.1038/ng744 · Cited by 217
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Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family
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Deletion of chromosome 13 in Moebius syndrome.
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Welniarz, Q., Dusart, I., & Roze, E. (2017) · Developmental Neurobiology · doi:10.1002/dneu.22455 · Cited by 326
Prenatal factors associated with autism spectrum disorder (ASD)
Ornoy, A., Weinstein-Fudim, L., & Ergaz, Z. (2015) · Reproductive Toxicology · doi:10.1016/j.reprotox.2015.05.007 · Cited by 238
Rives Bogart, K., & Matsumoto, D. (2010) · Social Neuroscience · doi:10.1080/17470910903395692 · Cited by 135
Miller, M. T., Ventura, L., & Strömland, K. (2009) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20609 · Cited by 56
Metadata
- Authors
- Verzijl, H. T. F. M., van der Zwaag, B., Cruysberg, J. R. M., & Padberg, G. W.
- Venue
- Neurology
- Published
- 2003-08-12
- Volume
- 61
- Issue
- 3
- Pages
- 327-333
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1983419838
- Cited by
- 297
- References
- 26
- FWCI
- 7.53
- Type
- journal article
- Language
- en
- Open access
- closed
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- Verzijl, H. T. F. M., van der Zwaag, B., Cruysberg, J. R. M., & Padberg, G. W. (2003). Möbius syndrome redefined: A syndrome of rhombencephalic maldevelopment. Neurology. https://doi.org/10.1212/01.wnl.0000076484.91275.cd
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