Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings.
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.
Koch
Bernadette
B
Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, USA. Bernadette.Koch@cchmc.org
Goold
Amy
A
Egelhoff
John
J
Benton
Corning
C
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*