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
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.