[Moebius syndrome. Three different forms of presentation].
Аннотация
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.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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