title: Three new patients with FATCO: fibular agenesis with ectrodactyly.
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. ©
authors.affiliation: Department of Diagnostic Imaging, Polish Mother's Memorial Hospital, Lodz, Poland. biegan@mazurek.man.lodz.pl
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Bieganski
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
authors.forename: Anna
authors.initials: A
authors.lastname: Sowinska
authors.forename: Dobromila
authors.initials: D
authors.lastname: Baranska
authors.forename: Kryspin
authors.initials: K
authors.lastname: Niedzielski
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozlowski
authors.forename: Malwina
authors.initials: M
authors.lastname: Czarny-Ratajczak
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D005260:Female; D005360:Fibula / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D051153:Wnt Proteins / Q000235:genetics
chemical_list: D011518:Proto-Oncogene Proteins; C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C491119:WNT10B protein, human; D051153:Wnt Proteins