Absent thumb, radial deviation of wrist, bowing of forearm with thrombocytopenia which investigation need not to be done ?
Correct Answer: Echocardiography
Description: 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
Category:
Pediatrics
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