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Title: | Moebius' syndrome. Three different forms of presentation | Authors: | Marti-Herrero, M Cabrera-Lopez, JC Toledo, L Perez-Candela, V Bonnet, D |
UNESCO Clasification: | 32 Ciencias médicas 320507 Neurología 320711 Neuropatología |
Keywords: | Cranial Nerves Paralysis Moebius'S Syndrome Special Facies |
Issue Date: | 1998 | Journal: | Revista de Neurologia | Abstract: | Introduction. Moebius's syndrome is an entity present at birth, characterized by oculofacial paralysis and external ophthalmoplegia. Other cranial nerves can also be affected and associated to skeletal abnormalities and neurologic symptoms. It appears sporadically sometimes of familiar nature, presenting special facies with total absence of facial expression and severe strabismus. The pathogenesis of the syndrome still remains unknown, being the transitory situation of fetal hypoxia/ischemic the most accepted theory. In some cases chromosomal abnormalities have been detected. Clinical case. We reported three children with different symptoms, two of them are siblings whose father is affected bur he was not diagnosed until adult age. Conclusions. We conclude pointing out the different presentation of the disease, the appearance in several members of a family and its chronically evolution. | URI: | http://hdl.handle.net/10553/76045 | ISSN: | 0210-0010 | DOI: | 10.33588/rn.27160.98066 | Source: | Revista De Neurologia [ISSN 0210-0010], v. 27 (160), p. 975-978, (Diciembre 1998) |
Appears in Collections: | Artículos |
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