TAR syndrome Case 3 6/7/2009

So what we see is bilateral absent radii. Absence of the radius is associated with multiple disorders and syndromes. Therefore because both radii are missing suggests a syndrome and the history of thrombocytopenia helps come up with a diagnosis.

TAR syndrome - thrombocytopenia absent radius syndrome.

Differential - Fanconi's Anemia, VACTERL syndrome (Vertebral anomalies, anal atresia, cardiac anamolies, tracheo-esophageal fistula, radial ray anomalies) etc.

Fanconi's - oftentimes has missing thumbs. Short stature, skeletal dysplasias, bone marrow failure, cellular sensitivity and risk for solid tumors and leukemias; needs bone marrow transplant; generally considered to be Auto recessive.

VACTERL - obviously has a lot of other additional problems.

References - http://www.wikipedia.org/ and http://www.medcyclopaedia.com/