Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations
| العنوان: | Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations |
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| المؤلفون: | Vincent Couloigner, Guy Sebag, Monique Elmaleh-Bergès, N. Noël-Pétroff, Meredith Wilson, Sandrine Marlin, A. Sekkal, Koenraad Devriendt, Veronique Pingault, Clarisse Baumann |
| المصدر: | AJNR Am J Neuroradiol |
| بيانات النشر: | American Society of Neuroradiology (ASNR), 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Context (language use), Pediatrics, Diagnosis, Differential, Young Adult, Temporal bone, otorhinolaryngologic diseases, medicine, Humans, Parotid Gland, Waardenburg Syndrome, Radiology, Nuclear Medicine and imaging, Child, Cochlear Nerve, Retrospective Studies, Semicircular canal, SOXE Transcription Factors, Waardenburg syndrome, business.industry, Infant, Newborn, Cochlear nerve, Infant, Temporal Bone, Anatomy, medicine.disease, Olfactory Bulb, Semicircular Canals, Hypoplasia, Cochlea, Radiography, medicine.anatomical_structure, Child, Preschool, Ear, Inner, Agenesis, Mutation, Female, sense organs, Neurology (clinical), medicine.symptom, business |
| الوصف: | BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients. MATERIALS AND METHODS: Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only. RESULTS: Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of ≥1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13). CONCLUSIONS: In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation. |
| تدمد: | 1936-959X 0195-6108 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1e7cb3465a5599fb6da97dfd7cb5f5Test https://doi.org/10.3174/ajnr.a3367Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9c1e7cb3465a5599fb6da97dfd7cb5f5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1936959X 01956108 |
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