title: Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis.
abstract: Auriculo-condylar syndrome (ACS) is a rare condition affecting first branchial arch structures. The types of hearing loss and temporal bone findings in ACS have not been reported. We describe a 14-year-old male with constricted pinnae, mandibular dysostosis, glossoptosis, a high-arched palate, hearing loss, and cholesteatoma. Computed tomography imaging demonstrated malleoincudal joint ankylosis. The fused malleoincudal complex was removed during mastoidectomy for cholesteatoma. Electron microscopy and histopathology of the joint suggested the fusion was congenital. This is the first report of ossicular fusion and cholesteatoma in ACS and the most detailed in vivo evidence of disruption of embryogenesis during malleoincudal joint formation.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, Toronto, Canada. evan.propst@utoronto.ca
authors.forename: Evan J
authors.initials: EJ
authors.lastname: Propst
authors.forename: Bo Y
authors.initials: BY
authors.lastname: Ngan
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Mount
authors.forename: Daniel
authors.initials: D
authors.lastname: Martin-Munoz
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Robert V
authors.initials: RV
authors.lastname: Harrison
authors.forename: Sharon L
authors.initials: SL
authors.lastname: Cushing
authors.forename: Blake C
authors.initials: BC
authors.lastname: Papsin
mesh_terms: D000293:Adolescent; D018424:Cholesteatoma, Middle Ear / Q000175:diagnosis* / Q000601:surgery; D004423:Ear / Q000002:abnormalities / Q000601:surgery; D004427:Ear Diseases / Q000175:diagnosis* / Q000601:surgery; D004429:Ear Ossicles / Q000196:embryology* / Q000473:pathology* / Q000601:surgery; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D014057:Tomography, X-Ray Computed; D014433:Tympanoplasty