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

Gitte Smets, Yoeri Vankan, Annick Demeyere

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3 Citations (Scopus)

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.

Original languageEnglish
Article number41
Number of pages4
JournalJournal of the Belgian Society of Radiology
Volume100
Issue number1
DOIs
Publication statusPublished - 26 Feb 2016

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