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Three new patients with FATCO: Fibular agenesis with ectrodactyly
Author(s) -
Bieganski Tadeusz,
Jamsheer Aleksander,
Sowinska Anna,
Baranska Dobromila,
Niedzielski Kryspin,
Kozlowski Kazimierz,
CzarnyRatajczak Malwina
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35369
Subject(s) - ectrodactyly , agenesis , aplasia , medicine , phenotype , anatomy , gene , genetics , dermatology , biology , ectodermal dysplasia
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. © 2012 Wiley Periodicals, Inc.