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Temporal bone CT findings in Cornelia de Lange syndrome.

Authors
 J. Kim  ;  E.Y. Kim  ;  J.S. Lee  ;  W.S. Lee  ;  H.N. Kim 
Citation
 AMERICAN JOURNAL OF NEURORADIOLOGY, Vol.29(3) : 569-573, 2008 
Journal Title
AMERICAN JOURNAL OF NEURORADIOLOGY
ISSN
 0195-6108 
Issue Date
2008
MeSH
Child ; Child, Preschool ; De Lange Syndrome/diagnostic imaging* ; Female ; Hearing Loss/diagnosis* ; Humans ; Infant ; Male ; Reproducibility of Results ; Sensitivity and Specificity ; Statistics as Topic ; Temporal Bone/diagnostic imaging* ; Tomography, X-Ray Computed/methods*
Keywords
Child ; Child, Preschool ; De Lange Syndrome/diagnostic imaging* ; Female ; Hearing Loss/diagnosis* ; Humans ; Infant ; Male ; Reproducibility of Results ; Sensitivity and Specificity ; Statistics as Topic ; Temporal Bone/diagnostic imaging* ; Tomography, X-Ray Computed/methods*
Abstract
BACKGROUND AND PURPOSE:

Cornelia de Lange syndrome is a rare developmental malformation syndrome with a high prevalence of hearing impairment. The purposes of this study were to describe the characteristic temporal bone CT findings in patients with Cornelia de Lange syndrome and to correlate audiometric data with radiologic findings in these patients.

MATERIALS AND METHODS:

Ten children (6 girls and 4 boys; mean age, 42.0 months) who were clinically diagnosed with Cornelia de Lange syndrome (classic, n = 5; mild form, n = 5) were enrolled. Temporal bone CT was prospectively performed, and 32 aspects of each temporal bone CT were analyzed, 21 by direct measurement and 11 by visual inspection. Twenty age-matched children (n = 20 ears) with normal temporal bone CT scans served as a control group. Audiologic tests were also performed on all patients.

RESULTS:

Characteristic temporal bone CT findings of Cornelia de Lange syndrome were external auditory canal stenosis, soft-tissue opacification of the hypoplastic tympanomastoid cavity, dysmorphic ossicle, hypoplastic cochlea, and dysplastic vestibule, all of which were more prevalent in patients with the classic form of the disease than in those with the mild form. Children who had more severe structural abnormalities on temporal bone CT had worse hearing levels compared with those without structural abnormalities.

CONCLUSION:

Temporal bone CT scans in Cornelia de Lange syndrome could document combined structural abnormalities of the external, middle, and inner ear, which were one of the characteristic clinical manifestations; CT abnormalities were well correlated with the audiometric data
Files in This Item:
T200800651.pdf Download
DOI
10.3174/ajnr.A0888
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Eung Yeop(김응엽)
Kim, Jinna(김진아) ORCID logo https://orcid.org/0000-0002-9978-4356
Kim, Hee Nam(김희남)
Lee, Won Sang(이원상)
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/106892
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