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Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13—an important diagnostic aid

✍ Scribed by Chabra, Shilpi; Kriss, Vesna Martich; Pauly, Thomas H.; Hall, Bryan D.


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
17 KB
Volume
72
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19971031)72:3<291::aid-ajmg7>3.0.co;2-u

No coin nor oath required. For personal study only.

✦ Synopsis


We performed a retrospective review of all the infants diagnosed with trisomy 13 in our institution from 1982 to 1995 and evaluated the neurosonographic findings along with their clinical information and cytogenetic analysis. Nine babies were admitted with trisomy 13. Sonography of the head was performed on 4 patients, and demonstrated in all of them a linear, branching, echogenic pattern in the thalamus/basal ganglia. Doppler evaluation of the thalamus/basal ganglia was performed in 3 of the 4 cases and confirmed these linear echogenicities to be of vascular origin. This is the first study to evaluated the occurrence of this finding in a specific syndrome, namely trisomy 13.


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