Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies

American Journal of Medical Genetics
M R MacDonaldD F Patton

Abstract

Thrombocytopenia with absent radius (TAR) syndrome is infrequently (7%) associated with mental retardation. In those cases, the mental deficiency is presumed to be a consequence of intracranial hemorrhage due to the thrombocytopenia. We report on 2 infants with TAR syndrome. One had developmental delay with evidence of cerebral dysgenesis by magnetic resonance imaging (MRI). Such findings have not been noted in the literature, 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, preferably 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.

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Citations

Feb 10, 2012·European Journal of Human Genetics : EJHG·Jill A RosenfeldUNKNOWN 1q21.1 Study Group
Sep 20, 2005·The Australian and New Zealand Journal of Psychiatry·Perminder Sachdev
Jul 30, 2010·BMC Developmental Biology·Anna IvanovaChristof Dame
Jan 13, 2011·Pediatric Blood & Cancer·Nazareth Martinón-TorresJose Miguel Couselo
Nov 19, 2013·Neuroscience and Biobehavioral Reviews·Lam Son NguyenJozef Gecz
Nov 5, 2003·American Journal of Medical Genetics. Part a·Sarah C MenghsolKim Ornvold
May 27, 1999·Journal of Pediatric Orthopedics·T M McLaurinD M Mochel
May 24, 2018·Reviews in the Neurosciences·Katarzyna BartkowskaRuzanna L Djavadian

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