title: Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.
abstract: We report on a boy with absent radii and intermittent thrombocytopenia. He has many other manifestations of the thrombocytopenia absent radius (TAR) syndrome but in addition has manifestations not previously described: palatoschisis of the soft palate, subcricoid stenosis, duodenal atresia and extreme sensitivity of chromosomes to X-rays. Our patient could either represent a unique condition or unusual variability of TAR syndrome.
authors.affiliation: Clinical Genetics Center, University Hospital Leiden, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: van Haeringen
authors.forename: F
authors.initials: F
authors.lastname: Veenstra
authors.forename: P D
authors.initials: PD
authors.lastname: Maaswinkel-Mooij
authors.forename: J J
authors.initials: JJ
authors.lastname: van de Kamp
mesh_terms: D000015:Abnormalities, Multiple; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications* / Q000235:genetics; D014457:Ulna / Q000002:abnormalities