Literature DB >> 22628253

Three new patients with FATCO: fibular agenesis with ectrodactyly.

Tadeusz Bieganski1, Aleksander Jamsheer, Anna Sowinska, Dobromila Baranska, Kryspin Niedzielski, Kazimierz Kozlowski, Malwina Czarny-Ratajczak.   

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. ©
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID： 22628253     DOI： 10.1002/ajmg.a.35369

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  6 in total

1.  A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation.

Authors:  Hale Önder Yılmaz; Duran Topak; Orkun Yılmaz; Seda Çakmaklı
Journal:  J Pediatr Genet       Date:  2018-11-18

2.  Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant.

Authors:  Ebtesam M Abdalla; Ahmed A El-Beheiry
Journal:  J Pediatr Genet       Date:  2017-01-02

3.  Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.

Authors:  Anna Sowińska-Seidler; Monika Piwecka; Ewelina Olech; Magdalena Socha; Anna Latos-Bieleńska; Aleksander Jamsheer
Journal:  J Appl Genet       Date:  2014-10-23       Impact factor: 3.240

4.  A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report.

Authors:  Gitte Smets; Yoeri Vankan; Annick Demeyere
Journal:  J Belg Soc Radiol       Date:  2016-02-26       Impact factor: 1.894

5.  Fibular Hypoplasia, Talar Aplasia, Absent Proximal Tibial Growth Plate and Oligosyndactyly (Variant of Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome) - Paucity of Case Reports with Evolving Definition.

Authors:  Pankaj Kumar Mishra; Maneesh Verma
Journal:  J Orthop Case Rep       Date:  2021-08

6.  Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight.

Authors:  Marian K Georgeos; Dina R Elgzzar
Journal:  Cureus       Date:  2022-01-28
  6 in total

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