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A family with hereditary congenital facial paresis and a brief review of the literature.
Alrashdi, Ismail S; Rich, Philip; Patton, Michael A.
Afiliación
  • Alrashdi IS; Department of Medical Genetics, St George's Hospital Medical School Atkinson Morley Department of Neuroradiology, St George's Hospital, London, UK.
Clin Dysmorphol ; 19(4): 198-201, 2010 Oct.
Article en En | MEDLINE | ID: mdl-20577083
ABSTRACT
Hereditary congenital facial paresis is a rare syndrome of isolated facial nerve palsy causing facial asymmetry and ptosis. Most described cases follow an autosomal dominant pattern of inheritance. It differs from Moebius syndrome, which is usually sporadic and associated with the involvement of other cranial nerves, commonly the abducens nerve in addition to orofacial and limb malformations and defects of the musculoskeletal system. We present three patients from the same family with features of congenital hereditary facial paresis. Facial asymmetry and facial weakness were the most remarkable findings. High-resolution imaging showed both facial nerves to be present but symmetrically and markedly hypoplastic with no other structural abnormality in the brainstem. This syndrome has been previously mapped to chromosome 3q21-22 but no gene has been identified as yet.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Parálisis Facial Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2010 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Parálisis Facial Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2010 Tipo del documento: Article País de afiliación: Reino Unido