NEUROSONOGRAPHIC DIAGNOSIS OF THALAMIC BASAL GANGLIA VASCULOPATHY IN TRISOMY-13 - AN IMPORTANT DIAGNOSTIC-AID/

Citation
S. Chabra et al., NEUROSONOGRAPHIC DIAGNOSIS OF THALAMIC BASAL GANGLIA VASCULOPATHY IN TRISOMY-13 - AN IMPORTANT DIAGNOSTIC-AID/, American journal of medical genetics, 72(3), 1997, pp. 291-293
Citations number
9
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
72
Issue
3
Year of publication
1997
Pages
291 - 293
Database
ISI
SICI code
0148-7299(1997)72:3<291:NDOTBG>2.0.ZU;2-#
Abstract
We performed a retrospective review of all the infants diagnosed with trisomy 13 in our institution from 1982 to 1995 and evaluated the neur osonographic findings along with their clinical information and cytoge netic analysis, Nine babies were admitted with trisomy 13. Sonography of the head was performed on 4 patients, and demonstrated in all of th em a linear, branching, echogenic pattern in the thalamus/basal gangli a, Doppler evaluation of the thalamus/basal ganglia was performed in 3 of the 4 cases and confirmed these linear echogenicities to be of vas cular origin, This is the first study to evaluated the occurrence of t his finding in a specific syndrome, namely trisomy 13. (C) 1997 Wiley- Liss, Inc.