title: Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
abstract: Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches.
  
  
  OBJECTIVE
  To investigate the ear abnormalities of a sample of patients with OAVS.
  
  
  METHODS
  The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings.
  
  
  RESULTS
  Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n = 12), middle (n = 10) and inner ear (n = 3). Microtia was the most frequent finding (n = 12). The most common abnormalities of the middle ear were: opacification (n = 2), displacement (n = 2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n = 2) was the most frequent alteration of the inner ear.
  
  
  CONCLUSIONS
  Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.
authors.affiliation: Master's degree, medical geneticist at UFCSPA/CHSCPA, and doctoral student in the graduate program on pathology, UFCSPA.
authors.forename: Rafael Fabiano Machado
authors.initials: RFM
authors.lastname: Rosa
authors.affiliation: Community physicians, resident in the medical genetics program, UFCSPA, Brazil.
authors.forename: Alessandra Pawelec
authors.initials: AP
authors.lastname: da Silva
authors.affiliation: Speech therapy student, UFCSPA, Brazil.
authors.forename: Thayse Bienert
authors.initials: TB
authors.lastname: Goetze
authors.affiliation: Speech therapy student, UFCSPA, Brazil.
authors.forename: Bianca
authors.initials: B
authors.lastname: de Almeida Bier
authors.affiliation: Master's degree, speech therapist, professor of the speech therapy course, UFCSPA. Doctoral student in the graduate program on gastroenterology, Rio Grande do Sul Federal University (UFRGS), Brazil.
authors.forename: Sheila Tamanini
authors.initials: ST
authors.lastname: de Almeida
authors.affiliation: Doctoral degree, medical geneticist at UFCSPA/CHSCPA. Professor of clinical genetics and of the graduate program on pathology, UFCSPA. Cytogeneticist in charge of the Laboratório de Citogenética (Cytogenetics Lab), UFCSPA, Brazil.
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
authors.affiliation: Doctoral degree, medical geneticist, UFCSPA/CHSCPA. Professor of clinical genetics and of the graduate program on pathology, UFCSPA, Brazil.
authors.forename: Paulo Ricardo Gazzola
authors.initials: PRG
authors.lastname: Zen
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D054644:Ear Auricle / Q000002:abnormalities*; D007758:Ear, Inner / Q000002:abnormalities*; D004432:Ear, Middle / Q000002:abnormalities*; D005260:Female; D006053:Goldenhar Syndrome / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed