Tags

Type your tag names separated by a space and hit enter

Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies.
Am J Med Genet. 1994 Mar 01; 50(1):46-50.AJ

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.

Authors+Show Affiliations

Meyer Rehabilitation Institute, University of Nebraska Medical Center, Omaha 68198-5430.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7512789

Citation

MacDonald, M R., et al. "Hypoplasia of the Cerebellar Vermis and Corpus Callosum in Thrombocytopenia With Absent Radius Syndrome On MRI Studies." American Journal of Medical Genetics, vol. 50, no. 1, 1994, pp. 46-50.
MacDonald MR, Schaefer GB, Olney AH, et al. Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies. Am J Med Genet. 1994;50(1):46-50.
MacDonald, M. R., Schaefer, G. B., Olney, A. H., & Patton, D. F. (1994). Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies. American Journal of Medical Genetics, 50(1), 46-50.
MacDonald MR, et al. Hypoplasia of the Cerebellar Vermis and Corpus Callosum in Thrombocytopenia With Absent Radius Syndrome On MRI Studies. Am J Med Genet. 1994 Mar 1;50(1):46-50. PubMed PMID: 7512789.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies. AU - MacDonald,M R, AU - Schaefer,G B, AU - Olney,A H, AU - Patton,D F, PY - 1994/3/1/pubmed PY - 1994/3/1/medline PY - 1994/3/1/entrez SP - 46 EP - 50 JF - American journal of medical genetics JO - Am J Med Genet VL - 50 IS - 1 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7512789/Hypoplasia_of_the_cerebellar_vermis_and_corpus_callosum_in_thrombocytopenia_with_absent_radius_syndrome_on_MRI_studies_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=50&issue=1&spage=46 DB - PRIME DP - Unbound Medicine ER -