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Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.

Abstract

The thrombocytopenia-absent radius (TAR) syndrome (MIM 274000) is a congenital malformation syndrome characterised by bilateral absence of the radii with present thumbs, hypomegakaryocytic thrombocytopenia and a number of additional features including skeletal and cardiac anomalies. Mental retardation, reported in about 7% of patients, is usually secondary to intracranial hemorrhage. In 1994 there was a single report of a girl with TAR syndrome and hypoplasia of the cerebellar vermis and corpus callosum and in 2003 another case of TAR syndrome with cerebellar dysgenesis has been reported. In 2000 there was first report of horseshoe kidney in association with TAR syndrome followed by a clinical study of 34 cases with TAR syndrome in 2002 where horseshoe kidney was noted in two cases. Here we report of a girl with TAR syndrome, severe mental retardation, agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. There is no previous report of a child with TAR syndrome and all those associated anomalies in the same patient.

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Authors+Show Affiliations

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Department of Diabetology, Newborn Pathology and Birth Defects, Medical University of Warsaw, Dzialdowska 1, 01-184 Warsaw, Poland. agatkas@qdnet.pl

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Source

MeSH

Abnormalities, Multiple
Agenesis of Corpus Callosum
Cerebellum
Epilepsy, Generalized
Fatal Outcome
Female
Humans
Infant
Intellectual Disability
Kidney
Psychomotor Disorders
Radius
Syndrome
Thrombocytopenia

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16440880

Citation

Skórka, A, et al. "Thrombocytopenia-absent Radius (tar) Syndrome: a Case With Agenesis of Corpus Callosum, Hypoplasia of Cerebellar Vermis and Horseshoe Kidney." Genetic Counseling (Geneva, Switzerland), vol. 16, no. 4, 2005, pp. 377-82.
Skórka A, Bielicka-Cymermann J, Gieruszczak-Białek D, et al. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. Genet Couns. 2005;16(4):377-82.
Skórka, A., Bielicka-Cymermann, J., Gieruszczak-Białek, D., & Korniszewski, L. (2005). Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. Genetic Counseling (Geneva, Switzerland), 16(4), pp. 377-82.
Skórka A, et al. Thrombocytopenia-absent Radius (tar) Syndrome: a Case With Agenesis of Corpus Callosum, Hypoplasia of Cerebellar Vermis and Horseshoe Kidney. Genet Couns. 2005;16(4):377-82. PubMed PMID: 16440880.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. AU - Skórka,A, AU - Bielicka-Cymermann,J, AU - Gieruszczak-Białek,D, AU - Korniszewski,L, PY - 2006/1/31/pubmed PY - 2006/4/6/medline PY - 2006/1/31/entrez SP - 377 EP - 82 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 16 IS - 4 N2 - The thrombocytopenia-absent radius (TAR) syndrome (MIM 274000) is a congenital malformation syndrome characterised by bilateral absence of the radii with present thumbs, hypomegakaryocytic thrombocytopenia and a number of additional features including skeletal and cardiac anomalies. Mental retardation, reported in about 7% of patients, is usually secondary to intracranial hemorrhage. In 1994 there was a single report of a girl with TAR syndrome and hypoplasia of the cerebellar vermis and corpus callosum and in 2003 another case of TAR syndrome with cerebellar dysgenesis has been reported. In 2000 there was first report of horseshoe kidney in association with TAR syndrome followed by a clinical study of 34 cases with TAR syndrome in 2002 where horseshoe kidney was noted in two cases. Here we report of a girl with TAR syndrome, severe mental retardation, agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. There is no previous report of a child with TAR syndrome and all those associated anomalies in the same patient. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16440880/Thrombocytopenia_absent_radius__tar__syndrome:_a_case_with_agenesis_of_corpus_callosum_hypoplasia_of_cerebellar_vermis_and_horseshoe_kidney_ L2 - http://www.diseaseinfosearch.org/result/263 DB - PRIME DP - Unbound Medicine ER -