title: A family with hereditary congenital facial paresis and a brief review of the literature.
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.
authors.affiliation: Department of Medical Genetics, St George's Hospital Medical School Atkinson Morley Department of Neuroradiology, St George's Hospital, London, UK.
authors.forename: Ismail S
authors.initials: IS
authors.lastname: Alrashdi
authors.forename: Philip
authors.initials: P
authors.lastname: Rich
authors.forename: Michael A
authors.initials: MA
authors.lastname: Patton
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005158:Facial Paralysis / Q000151:congenital / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D008297:Male