2020
DOI: 10.1055/a-1225-4388
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Prenatal Diagnosis of FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly) with 2D/3D Ultrasonography

Abstract: IntroductionFibular hemimelia is a congenital lower limb anomaly characterized by the partial or complete absence of the fibula. It includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia. Although rare in occurrence, it is the most common congenital absence of long bone of the extremities 1.

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Cited by 4 publications
(6 citation statements)
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“…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;…”
Section: Discussionsupporting
confidence: 55%
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“…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;…”
Section: Discussionsupporting
confidence: 55%
“…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.…”
Section: Discussionmentioning
confidence: 99%
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“…In previous reports of FATCO syndrome, limited genetic testing has been performed. Most commonly, chromosome analysis was performed (16 reported cases) which has been normal, aside from the case with Klinefelter which showed 47, XXY (Capece et al, 1994; Courtens et al, 2005; Ekbote & Danda, 2012; Hecht & Scott, 1981; Isik et al, 2019; Izadi & Salehnia, 2020; Kitaoka et al, 2009; Marinho et al, 2020; Nogueira et al, 2016; Sezer et al, 2014; Yucel Celik et al, 2021). In six cases microarray was performed and normal (Isik et al, 2019; Izadi & Salehnia, 2020; Marinho et al, 2020; Nogueira et al, 2016; Önder Yilmaz et al, 2019; Sezer et al, 2014; Yucel Celik et al, 2021).…”
Section: Discussionmentioning
confidence: 99%
“…Most commonly, chromosome analysis was performed (16 reported cases) which has been normal, aside from the case with Klinefelter which showed 47, XXY (Capece et al, 1994; Courtens et al, 2005; Ekbote & Danda, 2012; Hecht & Scott, 1981; Isik et al, 2019; Izadi & Salehnia, 2020; Kitaoka et al, 2009; Marinho et al, 2020; Nogueira et al, 2016; Sezer et al, 2014; Yucel Celik et al, 2021). In six cases microarray was performed and normal (Isik et al, 2019; Izadi & Salehnia, 2020; Marinho et al, 2020; Nogueira et al, 2016; Önder Yilmaz et al, 2019; Sezer et al, 2014; Yucel Celik et al, 2021). In few cases, WNT7A analysis was performed and normal (Kitaoka et al, 2009; Önder Yilmaz et al, 2019; Yucel Celik et al, 2021) and in one case each TP63 , WNT10B , and NF1 analysis was completed and normal (Bieganski et al, 2012; Önder Yilmaz et al, 2019).…”
Section: Discussionmentioning
confidence: 99%