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Am J Med Genet ; 34(2): 202-6, 1989 Oct.
Article in English | MEDLINE | ID: mdl-2816998

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.


Subject(s)
Radius/abnormalities , Thrombocytopenia/complications , Abnormalities, Multiple , Humans , Infant, Newborn , Male , Phenotype , Syndrome , Thrombocytopenia/genetics , Ulna/abnormalities
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