Moebius syndrome and hydrosyringomyelia: description of a new association
| Autor: | Marilena Cacudi, Leonarda Gennaro, Luciana Losito, Marta De Rinaldis, Antonio Trabacca |
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| Rok vydání: | 2012 |
| Předmět: |
Respiratory complications
Nerve palsy Thoracic Vertebrae Diagnosis Differential Abducens Nerve Medicine Humans Hydrosyringomyelia Neurologic Examination business.industry Cranial nerves Brain Anatomy medicine.disease Spinal cord Magnetic Resonance Imaging Mobius Syndrome Syringomyelia Facial Nerve medicine.anatomical_structure Spinal Cord Child Preschool Karyotyping Pediatrics Perinatology and Child Health Cervical Vertebrae Autism Female Neurology (clinical) business Congenital disorder |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1708-8283 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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