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

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 apl...

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Detalles Bibliográficos
Autores principales: Smets, Gitte, Vankan, Yoeri, Demeyere, Annick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6100663/
https://www.ncbi.nlm.nih.gov/pubmed/30151452
http://dx.doi.org/10.5334/jbr-btr.929
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author Smets, Gitte
Vankan, Yoeri
Demeyere, Annick
author_facet Smets, Gitte
Vankan, Yoeri
Demeyere, Annick
author_sort Smets, Gitte
collection PubMed
description 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.
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spelling pubmed-61006632018-08-27 A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report Smets, Gitte Vankan, Yoeri Demeyere, Annick J Belg Soc Radiol Case Report 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. Ubiquity Press 2016-02-26 /pmc/articles/PMC6100663/ /pubmed/30151452 http://dx.doi.org/10.5334/jbr-btr.929 Text en Copyright: © 2016 The Author(s) http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC-BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See http://creativecommons.org/licenses/by/4.0/.
spellingShingle Case Report
Smets, Gitte
Vankan, Yoeri
Demeyere, Annick
A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report
title A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report
title_full A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report
title_fullStr A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report
title_full_unstemmed A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report
title_short A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report
title_sort female newborn infant with fatco syndrome variant (fibular hypoplasia, tibial campomelia, oligosyndactyly) – a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6100663/
https://www.ncbi.nlm.nih.gov/pubmed/30151452
http://dx.doi.org/10.5334/jbr-btr.929
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