0 TAR , Fanconi Anemia

Absent thumb, radial deviation of wrist, bowing of forearm wid thrombocytopenia, which invg. need NOT to be done?
A. Echochardiography
b. Bone marrow examination
c. Platelet count
d. Karyotyping

ANSWER:

Ans is D....
D/D to this ques are :
1. TAR syndrome
2. Fanconi Anemia
Associations of absent radius-
1.TAR - thrombocytopenia and absent radius ass. with holt oram - ASD
2.Fanconi anemia has congenital aplastic anemia - therefore do bone marrow examination
3.Karyotyping will not be helpful(but very rarely Edwards can have absent radius )