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absent semicircular canals in charge syndrome radiologic spectrum of findings
ORIGINAL
RESEARCH
Absent Semicircular Canals in CHARGE
Syndrome: Radiologic Spectrum of Findings
A.K. Morimoto
R.H. Wiggins III
P.A. Hudgins
G.L. Hedlund
B. Hamilton
S.K. Mukherji
S.A. Telian
H.R. Harnsberger
BACKGROUND AND PURPOSE: This paper describes the CT findings that characterize the middle and
inner ear anomalies in coloboma, heart defects, choanal atresia, mental retardation, genitourinary, and
ear anomalies (CHARGE) syndrome. With this information, neuroradiologists will be better prepared to
provide clinically relevant information to their referring physicians regarding this rare syndrome.
MATERIALS AND METHODS: CT studies from 13 patients were reviewed by 2 neuroradiologists with
Certificate of Additional Qualification. Each ear was counted separately for a total of 26 ears. Middle
and inner ear anomalies associated with CHARGE syndrome were categorized. Investigational review
board approval was obtained.
RESULTS: Twenty of 26 (77%) ears demonstrated cochlear aperture atresia. Four of these ears were
evaluated with MR imaging and were found to lack a cochlear nerve. Twenty-one of 26 (81%) cochlea
had some form of dysplasia. Six of 26 (23%) round windows were aplastic. Three of 26 (12%) round
windows were hypoplastic. Twenty-one of 26 (81%) oval windows were atretic or aplastic. Fifteen of
26 (58%) vestibules were hypoplastic or dysplastic. There were 5 of 26 (19%) enlarged vestibular
aqueducts. Twelve of 26 (46%) vestibular aqueducts had an anomalous course. All cases demon-
strated absent semicircular canals. Twenty-three of 26 (88%) facial nerve canals had an anomalous
course. Four of 26 (15%) tympanic segments were prolapsed. Three of 26 (12%) temporal bones had
an anomalous emissary vein referred to as a petrosquamosal sinus. Twenty-one of 26 (81%) middle
ear cavities were small. Twenty-three of 26 (93%) ossicles were dysplastic with ankylosis. Three of 26
(12%) internal auditory canals were small.
CONCLUSION: The CT findings that correlate to the an
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