Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.
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.
van Haeringen
A
A
Clinical Genetics Center, University Hospital Leiden, The Netherlands.
Veenstra
F
F
Maaswinkel-Mooij
P D
PD
van de Kamp
J J
JJ
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