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Oculo-auriculo-vert...
Oculo-auriculo-vertebral spectrum : going beyond the first and second pharyngeal arch involvement
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- Davide, Brotto (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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- Renzo, Manara (author)
- Neuroradiology, Sezione di Neuroscienze, University of Salerno, Salerno, Italy
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- Sara, Ghiselli (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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- Elisa, Lovo (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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- Rodica, Mardari (author)
- Neuroradiology, University Hospital of Padova, Padova, Italy
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- Irene, Toldo (author)
- Pediatric Neurology Unit, Department of Woman's and Child's Health, University of Padova, Padova, Italy
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- Alessandro, Castiglione, 1976- (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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- Giovanni, Schifano (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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- Valentina, Stritoni (author)
- TIPED, Department of Pediatrics, University of Padova, Padova, Italy
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- Roberto, Bovo (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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- Patrizia, Trevisi (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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- Alessandro, Martini (author)
- Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Padova, Italy
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(creator_code:org_t)
- 2017-03-01
- 2017
- English.
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In: Neuroradiology. - Berlin : Springer. - 0028-3940 .- 1432-1920. ; 59:3, s. 305-316
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- Introduction: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients.Methods: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome). Internal carotid artery hypoplasia/agenesia and abnormal course, brain abnormalities, internal acoustic canal stenosis/aplasia, cochlear-vestibular malformations, facial nerve bony canal anomalies, and oval window atresia were recorded.Results: Nine of 35 (26%) OAVS patients showed internal carotid artery anomalies; 18/32 (56%) had protean brain MRI abnormalities, ranging from tegmental cap anomaly to mild ventriculomegaly, which were associated with Goldenhar syndrome (p < 0.001) and concomitant cranial nerve abnormalities (p = 0.004); 11/35 (31%) disclosed cochlear-vestibular abnormalities including Michel deformity, common cavity, cochlear hypoplasia, and incomplete partition type-1 that were associated with Goldenhar syndrome (p = 0.01) and ipsilateral VIII cranial nerve abnormalities (p < 0.001); 16/35 (46%, 23 sides) presented facial nerve bony canal abnormalities that were associated with Goldenhar syndrome (p < 0.001) and ipsilateral VII cranial nerve (p < 0.001) and cochlear-vestibular (p < 0.001) abnormalities; and 23/31 (74%, 31 sides) showed oval window atresia, always with concomitant ossicular chain dysplasia.Conclusions: Intracranial vascular, bone, and brain abnormalities in OAVS patients are strikingly common and heterogeneous. As their detection might impact significantly on clinical and surgical management of affected patients, accurate neuroimaging investigations should be included in the diagnostic work-up of OAVS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Goldenhar syndrome
- Oculo-auriculo-vertebral spectrum
- Inner ear abnormalities
- Brain abnormalities
- Carotid artery abnormalities
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Davide, Brotto
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Renzo, Manara
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Sara, Ghiselli
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Elisa, Lovo
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Rodica, Mardari
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Irene, Toldo
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Alessandro, Cast ...
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Giovanni, Schifa ...
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Valentina, Strit ...
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Roberto, Bovo
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Patrizia, Trevis ...
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Alessandro, Mart ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Neuroradiology
- By the university
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Örebro University