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

doi:10.1007/s00234-017-1795-1

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Article

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

Neuroradiology - 1 Mar 2017

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

Abstract excerpt

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...

Topics

Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Female
Goldenhar Syndrome
Humans
Infant
Magnetic Resonance Imaging
Male
Phenotype
Tomography, X-Ray Computed

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Identifiers

PMID: 28251330
DOI: 10.1007/s00234-017-1795-1

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