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01-03-2017 | Head and Neck Radiology

Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement

Authors: Brotto Davide, Manara Renzo, Ghiselli Sara, Lovo Elisa, Mardari Rodica, Toldo Irene, Castiglione Alessandro, Schifano Giovanni, Stritoni Valentina, Bovo Roberto, Trevisi Patrizia, Martini Alessandro

Published in: Neuroradiology | Issue 3/2017

Abstract

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.

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Title: Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement
Authors: Brotto Davide
Manara Renzo
Ghiselli Sara
Lovo Elisa
Mardari Rodica
Toldo Irene
Castiglione Alessandro
Schifano Giovanni
Stritoni Valentina
Bovo Roberto
Trevisi Patrizia
Martini Alessandro
Publication date: 01-03-2017
Publisher: Springer Berlin Heidelberg
Published in: Neuroradiology / Issue 3/2017
Print ISSN: 0028-3940
Electronic ISSN: 1432-1920
DOI: https://doi.org/10.1007/s00234-017-1795-1

2024 ASCO Annual Meeting

Springer Medicine

Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement

Abstract

Introduction

Methods

Results

Conclusions

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusions

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