Mandibulofacial dysostosis: CT findings of the temporal bones.
Six patients of two families with clinically suspected and genetically proven Treacher Collins syndrome and hearing loss were studied by CT of the temporal bone. The objective of this study was to detect the abnormalities and to show the variation of expression of abnormalities. We found a high incidence of asymmetry in the different ear malformations and a slightly lower incidence of some other classical features, probably due to our patient selection.
van Vierzen
P B
PB
Department of Radiodiagnosis, University Hospital St. Radboud, Nijmegen, The Netherlands.
Joosten
F B
FB
Marres
H A
HA
Cremers
C W
CW
Ruijs
J H
JH
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004429:Ear Ossicles / Q000000981:diagnostic imaging; D004432:Ear, Middle / Q000000981:diagnostic imaging; D005154:Facial Nerve / Q000000981:diagnostic imaging; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging* / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed