0 TAR , Fanconi Anemia

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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 )

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