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Three new patients with FATCO: fibular agenesis with ectrodactyly
Tadeusz Bieganski1, Aleksander Jamsheer, Anna Sowinska
1Department of Diagnostic Imaging, Polish Mother's Memorial Hospital, Lodz, Poland. biegan@mazurek.man.lodz.pl
Abstract:
We document three new patients with fibular agenesis, tibial campomelia, and oligosyndactyly (FATCO). Two of these individuals had tetramelic manifestations while the third had bilateral abnormalities of the lower limbs. These patients and others reported as FATCO seem to belong to the phenotype "fibular aplasia with ectrodactyly." Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities. ©
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