Absent thumb, radial deviation of wrist, bowing of forearm with thrombocytopenia which investigation need not to be done ?

Characteristic features such as absent thumb and thrombocytopenia suggests Fanconis anemia. FEATURES OFFANCONISANEMIA Skin pigment change        --> Darkened areas of the skin, cafe-au-lait spots, vitiligo Upper limb                          --> Absent or hypoplastic thumb, absent or hypoplastic radii, dysplastic ulnae, clinodactyly Gonads                                —> Abnormal or atrophic testis Head and face                    -p Microcephaly, sprengels deformity, spina bifida Kidneys                                —+ Ectopic or pelvic, horseshoe, hypoplastic or dysplastic Abnormal eyes/eyelid Hematological abnormalities Pancytopenia+ thrombocytopenia and neutropenia these are the most common and most serious symptoms of Fanconis anemia. one marrow failure            ---> Its a major complication of Fanconis anemia Acute myeloid leukemia ---> Fanconis anemia have elevated risks of developing acute myeloid leukemia. Myelodysplastic syndromes —> Increased risk of myelodysplastic syndrome in Fanconis anemia. Common tests for Fanconis anemia include : Complete blood count (CBC) o Bone marrow biopsy                   o Chromosomal breakage analysis HLA tissue typing                      o Hearing test                                  o Hand X-ray and other imaging studies Developmental test                   o Ultrasound of the kidneys       Amniocentesis or chorionic vinous crimpling