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A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report Cover

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

Open Access
|Feb 2016

Abstract

Congenital limb deficiencies are common birth defects occurring in 1 in 2000 neonates, characterized by the aplasia or hypoplasia of bones of the limbs. Fibular hemimelia is a rare congenital deficiency or absence of the fibula. The disease spectrum ranges from mild fibular hypoplasia to fibular aplasia. Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) are purely descriptive terms for a syndrome of unknown genetic basis and inheritance. 

We report on a newborn female with malformations consisting of fibular hypoplasia, tibial campomelia, and oligosyndactyly, a second FATCO variant case. We also review previously reported cases. Given the paucity of reports on this rare syndrome and the lack of a standardized treatment approach, it is important that each case of FATCO syndrome is reported. 

DOI: https://doi.org/10.5334/jbr-btr.929 | Journal eISSN: 2514-8281
Language: English
Published on: Feb 26, 2016
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2016 Gitte Smets, Yoeri Vankan, Annick Demeyere, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.