title: Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings.
abstract: We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome.
authors.affiliation: Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, USA. Bernadette.Koch@cchmc.org
authors.forename: Bernadette
authors.initials: B
authors.lastname: Koch
authors.forename: Amy
authors.initials: A
authors.lastname: Goold
authors.forename: John
authors.initials: J
authors.lastname: Egelhoff
authors.forename: Corning
authors.initials: C
authors.lastname: Benton
mesh_terms: D016738:Alagille Syndrome / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D012665:Semicircular Canals / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed / Q000379:methods*