A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation

Abstract

We report a rare limb defect named as fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome in a female monozygotic twin with a normal twin sister, presented with anterior tibia pseudarthrosis, oligosyndactyly, and pes equinovarus. Radiographic examination displayed the absence of left fibulae, anterolateral pseudarthrosis of left tibia, and the absence of some metatarsus and phalangeal bones. Our case report is the first to report that only one of the identical twins was affected by FATCO syndrome, which is a significant finding because the pathogenicity of FATCO syndrome is yet to be identified, and this clinical case may provide a new insight for discovering the etiology of FATCO syndrome.

Fibular Hypoplasia, Talar Aplasia, Absent Proximal Tibial Growth Plate and Oligosyndactyly (Variant of Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome) – Paucity of Case Reports with Evolving Definition.

“…Hence, despite having the same DNA sequence how did FATCO syndrome happen in one of the monozygotic twin sisters. Hence we can say that FATCO syndrome does not occur only due to a gene mutation but also by other unknown mechanisms [ 6 ]. Moreover, one case report also has found the correlation of chromosomal aberration with FATCO syndrome [ 7 ].…”

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

“…Since monozygotic twins have the same DNA, it could be said that "FATCO" is not only due to DNA mutations but other mechanisms also play an important role. 14 Since our patient had no significant perinatal history, any family history of limb abnormalities, or any similar condition in any of the four siblings, this suggests that the syndrome occurred sporadically. Similarly, the mode of inheritance of this disease is also unclear.…”

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome

“…Until our study, no systematic larger sequencing analyses have been reported in a cohort of individuals with FATCO syndrome. In our cohort, we performed exome sequencing followed by genome Yilmaz et al, 2019). Hecht and Scott reported half siblings with limb deficiencies.…”

“…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).…”

“…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).…”