title: Moebius syndrome and hydrosyringomyelia: description of a new association.
abstract: The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. Moebius syndrome can be associated with orofacial anomalies and limb malformations. The authors describe a patient with a confirmed diagnosis of Moebius syndrome associated with hydrosyringomyelia. No case of Moebius syndrome involving primarily the spinal cord has been reported so far. This patient did not present with other factors directly linked to syringomyelia.
authors: Scientific Institute I.R.C.C.S. Eugenio Medea, La Nostra Famiglia, Unit of Neurorehabilitation I (Developmental Neurology and Functional Rehabilitation), Brindisi Research Centre, Brindisi, Italy.
authors: Luciana
authors: L
authors: Losito
authors: Leonarda
authors: L
authors: Gennaro
authors: Marilena
authors: M
authors: Cacudi
authors: Marta
authors: M
authors: De Rinaldis
authors: Antonio
authors: A
authors: Trabacca
mesh_terms: D000010:Abducens Nerve / Q000002:abnormalities / Q000473:pathology; D001921:Brain / Q000473:pathology; D002574:Cervical Vertebrae / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005154:Facial Nerve / Q000002:abnormalities / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D020331:Mobius Syndrome / Q000175:diagnosis* / Q000235:genetics; D009460:Neurologic Examination; D013116:Spinal Cord / Q000473:pathology; D013595:Syringomyelia / Q000175:diagnosis* / Q000235:genetics; D013904:Thoracic Vertebrae / Q000473:pathology