Mr. Macdonald et al., HYPOPLASIA OF THE CEREBELLAR VERMIS AND CORPUS-CALLOSUM IN THROMBOCYTOPENIA WITH ABSENT RADIUS SYNDROME ON MRI STUDIES, American journal of medical genetics, 50(1), 1994, pp. 46-50
Thrombocytopenia with absent radius (TAR) syndrome is infrequently (7%
) associated with mental retardation. In those cases, the mental defic
iency is presumed to be a consequence of intracranial hemorrhage due t
o the thrombocytopenia, We report on 2 infants with TAR syndrome. One
had developmental delay with evidence of cerebral dysgenesis by magnet
ic resonance imaging (MRI). Such findings have not been noted in the l
iterature, but may not have been investigated in most cases. The other
infant with TAR syndrome, who has had normal psychomotor development,
has a normal brain on MRI scan. Detailed neuroimaging studies, prefer
ably MRI, should be considered in the evaluation of patients with TAR
syndrome, especially when there are documented signs of developmental
delay, with or without a history of intracranial hemorrhage. (C) 1994
Wiley-Liss, Inc.