A case report on Fibular Aplasia, Tibial Campomelia, Oligosyndactyly Syndrome variant in a Male Infant

Abstract

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare, genetic, congenital limb malformation characterized by unilateral or bilateral fibular aplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. A newborn male born at term via a Caesarean Section presented with malformations consisting of tibial campomelia, unilateral fibular hypoplasia, and oligosyndactyly, a “FATCO variant” case. On radiographic examination, an anterolateral shortened and bowed right lower limb at the distal third of the tibia, a rudimentary right fibula and absence of three rays on right foot were revealed. “FATCO syndrome” although rare may be linked to involvement of different body systems with morbidity and mortality. Proper parent counseling is a key aspect of this syndrome. Timely diagnosis and management with a multidisciplinary approach is essential to avoid lifelong disability, which can be a hurdle in a developing country.

New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

“…FATCO is an uncommon entity whose prevalence has been reported to be less than one per million births ( https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=2,492 ). The majority of reported cases, as with the case reported here, present with the defined criteria for the complex, i.e., Fibular Aplasia, Tibial Campomelia and Oligosyndactyly ( Hecht and Scott, 1981 ; Cuillier et al, 2004 ; Courtens et al, 2005 ; Monteagudo et al, 2006 ; Kitaoka et al, 2009 ; Karaman and Kahveci, 2010 ; Vyskocil et al, 2011 ; Bieganski et al, 2012 ; Ekbote and Danda, 2012 ; Goyal, 2014 ; Sezer et al, 2014 ; Bastaki et al, 2015 ; Hazan et al, 2016 ; Nogueira et al, 2016 ; Smets et al, 2016 ; D’Amato Gutiérrez and Palacio Díaz, 2016 ; Abdalla and El-Beheiry, 2017 ; Ahmad et al, 2017 ; Petricevic, 2017 ; Guevara Zárate et al, 2018 ; Otaryan et al, 2018 ; Isik et al, 2019 ; Önder Yılmaz et al, 2019 ; Igoche and Umaru, 2020 ; Izadi and Salehnia, 2020 ; Kavipurapu et al, 2021 ; Marinho et al, 2021 ; Mishra and Verma, 2021 ; Yucel Celik et al, 2021 ; Mumtaz Hashmi et al, 2022 ; Georgeos and Elgzzar, 2022 ; Georgescu et al, 2022 ), but other systemic manifestations have been described in some cases ( Hecht and Scott, 1981 ; Courtens et al, 2005 ; Kitaoka et al, 2009 ; Bieganski et al, 2012 ; Nogueira et al, 2016 ; Isik et al, 2019 ; Igoche and Umaru, 2020 ; Kavipurapu et al, 2021 ; Marinho et al, 2021 ; Georgeos and Elgzzar, 2022 ). Although data is scarce, no significant difference in laterality nor with the frequency of other extra-skeletal conditions has been found, probably due to the rarity of this entity.…”

Four Decades of Foot and Ankle Research Activity: A Scientometric study of Subspecialty Foot and Ankle Journals

“…The fact that research productivity differ in different countries may reveal different countries' capabilities in science and technology. 3,4,6,8,[25][26][27][28] This scientometric analysis showed that more than 50% of documents published by authors from the United States, and nearly 90% of global foot and ankle documents were contributed by the top 10 countries. In addition, most of the top 10 were developed countries.…”