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Archivos de Pediatría del Uruguay
versión impresa ISSN 0004-0584versión On-line ISSN 1688-1249
Resumen
RAMIREZ-IZCOA, Alejandro et al. Moebius syndrome. Case report. Arch. Pediatr. Urug. [online]. 2017, vol.88, n.3, pp.157-160. ISSN 0004-0584.
Introduction:
Moebius syndrome is a congenital paralysis of the VII cranial nerve and may be associated with the involvement of other cranial nerves. It presents as a developmental disorder with congenital, non-progressive facial weakness and convergent strabismus with limited abduction of one or both eyes, these characteristics are attributed to the aplasia of the sixth and seventh cranial nerves. Prevalence is estimated at 1 / 250,000 live births with equal incidence in both sexes.
Objective:
to document the diagnosis and evolution of a patient with Moebius Syndrome.
Case report
: a 14-month-old patient, male, Honduran, on physical examination presented: non-expressive facies, convergent strabismus, poor blinking, low implantation of auricular pavilions, micrognathia, upper lip in carp, while trying to smile presented slight contraction of the labial commissure and bilateral varus equine foot. He was diagnosed with Moebius Syndrome, genetic counseling was provided to the parents and the patient received rehabilitation therapy and speech stimulation.
Discussion:
Moebius syndrome is an uncommon disease, recognition of this syndrome is important because its ethiology, complications and treatment are in constant study. Due to the cognitive sequelae, it is a disease that requires multidisciplinary management.
Palabras clave : Moebius syndrome.