Moebius’ syndrome. Three different forms of presentation
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, but 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
Caso clínico Presentamos a tres niños con distinta expresión de la enfermedad, dos de ellos hermanos cuyo padre estaba afectado igualmente por el síndrome, y que no fue diagnosticado hasta la edad adulta.
Conclusiones Señalamos la presentación de nuestros casos con distinta expresión del proceso, el carácter familiar del mismo, el curso estable y consideramos las posibilidades terapéuticas