Literature DB >> 9332656

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

S Chabra1, V M Kriss, T H Pauly, B D Hall.   

Abstract

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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Year:  1997        PMID: 9332656     DOI: 10.1002/(sici)1096-8628(19971031)72:3<291::aid-ajmg7>3.0.co;2-u

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Lenticulostriate echogenic vessels: clinical and sonographic study of 70 neonatal cases.

Authors:  Mayass El Ayoubi; Odile de Bethmann; Michèle Monset-Couchard
Journal:  Pediatr Radiol       Date:  2003-08-01

2.  Neonatal lenticulostriate vasculopathy: further characterisation.

Authors:  I R Makhoul; I Eisenstein; P Sujov; M Soudack; T Smolkin; A Tamir; M Epelman
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2003-09       Impact factor: 5.747

  2 in total

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