[CT findings of the temporal bones in Waardenburg's syndrome].
We reported three cases of Waardenburg's syndrome and discussed CT findings of the temporal bones. Two cases of these patients were mother and daughter. Case 1, a two-year-old girl, had lateral displacement of the medial canthi, a broad nasal root, hetero-chromic iridis, left ptosis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules, short lateral semicircular canal, and absent right posterior semicircular canal. The mother had congenital deafness, heterochromia iridis, and a white forelock and showed similar abnormal CT findings of the temporal bones. Case 2, a one-year-old boy, had lateral displacement of the medial canthi, a broad nasal root, partial heterochromia iridis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules and absence of semicircular canals except the right lateral semicircular canal. These cases were diagnosed as Waardenburg's syndrome on the basis of the characteristic features.
Irie
K
K
Department of Pediatrics, Fukuoka University School of Medicine.
Ogata
H
H
Mitsudome
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012665:Semicircular Canals / Q000002:abnormalities / Q000000981:diagnostic imaging; D013701:Temporal Bone / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed; D014722:Vestibule, Labyrinth / Q000002:abnormalities / Q000000981:diagnostic imaging; D014849:Waardenburg Syndrome / Q000000981:diagnostic imaging*