title: Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. davidebrotto@hotmail.it.
authors.forename: Brotto
authors.initials: B
authors.lastname: Davide
authors.affiliation: Neuroradiology, Sezione di Neuroscienze, University of Salerno, Salerno, Italy.
authors.forename: Manara
authors.initials: M
authors.lastname: Renzo
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Ghiselli
authors.initials: G
authors.lastname: Sara
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Lovo
authors.initials: L
authors.lastname: Elisa
authors.affiliation: Neuroradiology, University Hospital of Padova, Padova, Italy.
authors.forename: Mardari
authors.initials: M
authors.lastname: Rodica
authors.affiliation: Pediatric Neurology Unit, Department of Woman's and Child's Health, University of Padova, Padova, Italy.
authors.forename: Toldo
authors.initials: T
authors.lastname: Irene
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Castiglione
authors.initials: C
authors.lastname: Alessandro
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Schifano
authors.initials: S
authors.lastname: Giovanni
authors.affiliation: TIPED, Department of Pediatrics, University of Padova, Padova, Italy.
authors.forename: Stritoni
authors.initials: S
authors.lastname: Valentina
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Bovo
authors.initials: B
authors.lastname: Roberto
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Trevisi
authors.initials: T
authors.lastname: Patrizia
authors.affiliation: Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Martini
authors.initials: M
authors.lastname: Alessandro
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006053:Goldenhar Syndrome / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014057:Tomography, X-Ray Computed
keywords: Brain abnormalities; Carotid artery abnormalities; Goldenhar syndrome; Inner ear abnormalities; Oculo-auriculo-vertebral spectrum