title: 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.
authors.affiliation: Department of Diabetology, Newborn Pathology and Birth Defects, Medical University of Warsaw, Dzialdowska 1, 01-184 Warsaw, Poland. agatkas@qdnet.pl
authors.forename: A
authors.initials: A
authors.lastname: Skórka
authors.forename: J
authors.initials: J
authors.lastname: Bielicka-Cymermann
authors.forename: D
authors.initials: D
authors.lastname: Gieruszczak-Białek
authors.forename: L
authors.initials: L
authors.lastname: Korniszewski
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002531:Cerebellum / Q000002:abnormalities*; D004829:Epilepsy, Generalized; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities*; D011596:Psychomotor Disorders / Q000235:genetics*; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*