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

Journal of the Belgian Society of Radiology
Gitte SmetsAnnick Demeyere

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.

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Citations

Sep 17, 2020·Journal of Medical Case Reports·Niranjalee Samanthika EgodawaththeKumudu Weerasekara
Feb 20, 2021·Clinical Dysmorphology·Ozge Yucel CelikDilek Sahin

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Methods Mentioned

BETA
Cesarean section
amputation

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