Síndrome de Mobius: a propósito de un caso / Mobius syndrome: a case report
Rev cienc méd pinar río
; 15(3)sept. 2011. ilus
Article
in Spanish
| CUMED
| ID: cum-47449
Responsible library:
CU423.1
RESUMEN
Desde 1880 Von Graefe y Saemish agruparon algunos pacientes con trastornos congénitos infrecuentes de la región facial y no progresivos, lo cual fue descrito posteriormente por Paul Julius Moebius, en 1888, como síndrome de Moebius, definido como parálisis congénita de los núcleos de los pares craneales VI, motor ocular externo VII, facial y otros pares craneales como XII, hipogloso, III, motor ocular común, cuyo espectro clínico es variable; afecta a otros pares craneales y se asocia con múltiples malformaciones. Se presentan las características oftalmológicas y clínicas de una paciente a quien se le diagnosticó este síndrome genético. Por ser esta una entidad clínica poco conocida, factor que ha condenado a muchos pacientes a ser tratados como incapacitados mentales, el apoyo social es determinante, tanto para los afectados como para sus familiares...(AU)
ABSTRACT
In 1880 Von Graefe and Saemish grouped some patients with infrequent non progressive congenital disorders in facial region which was later described by Julius Moebius in 1888, as a Moebius syndrome, defined as congenital paralysis of the nucleus of the 6th cranial nerves, 7th external motor ocular nerve, facial and other cranial nerves as 12th, 3rd hypoglossal, common motor ocular which clinical spectrum is variable; other cranial nerves are affected and it is associated with multiple malformations. Clinical and Ophthalmologic characteristics of a female patient who was diagnosed with this genetic syndrome were presented. As this is a very rare condition, many patients were condemned to be treated as mentally handicapped, where social support is indispensable for both patients and families...(AU)
Full text:
Available
Collection:
National databases
/
Cuba
Database:
CUMED
Main subject:
Eye Abnormalities
/
Mobius Syndrome
Limits:
Humans
Language:
Spanish
Journal:
Rev cienc méd pinar río
Year:
2011
Document type:
Article
Institution/Affiliation country:
Centro Provincial de Medicina del Deporte/Cuba
/
Hospital Abel Santamaría Cuadrado/Cuba
/
Hospital Pepe Portilla/Cuba