Prenatal diagnosis of fibular aplasia‐tibial campomelia‐oligosyndactyly syndrome: Two case reports and review of the literature

Abstract

Fibular aplasia‐tibial campomelia‐oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.

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

“…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).…”

“…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).…”

“…There have been less than 30 cases of FATCO syndrome described in the literature to date, most as individual case reports and some with heterogeneous features, highlighting the complications of accurate phenotyping and diagnosis. Several reports have been associated with other findings including Klinefelter (Ekbote & Danda, 2012), cardiomegaly and cyanotic heart disease (Hecht & Scott, 1981), tracheoesophageal fistula and esophageal atresia (Marinho et al, 2020;Nogueira et al, 2016), cleft lip and palate (Kitaoka et al, 2009), and hydrocephalus (Isik et al, 2019 2021), with fibular hypoplasia rather than aplasia (Goyal et al, 2014), or previously classified as Femur-fibula-ulna (FFU) complex (MIM 228200) (Capece et al, 1994) or Fuhrmann syndrome (Huber et al, 2003).…”

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

“…Regarding the presence of additional signs of the musculoskeletal system, six of the cases had other anomalies reported: two presented micrognathia, one of them in association with tracheo-oesophageal fistulae and oesophageal atresia ( Courtens et al, 2005 ; Marinho et al, 2021 ); one had cleft palate and a left sided cleft lip ( Kitaoka et al, 2009 ); one showed mild intercostal, subcostal retractions and brachycephaly ( Georgeos and Elgzzar, 2022 ); one associated spina bifida occulta ( Kavipurapu et al, 2021 ); and another one showed not specified minor facial anomalies ( Nogueira et al, 2016 ).…”

“…One subject was found to have severe hydrocephaly with associated haemorrhage of the lateral ventricles ( Isik et al, 2019 ). There were three specimens showing cardiovascular alterations: one presented cardiomegaly with elevation of the apex ( Hecht and Scott, 1981 ), and the other two with an interventricular septal defect ( Bieganski et al, 2012 ; Igoche and Umaru, 2020 ); two cases had tracheo-oesophageal fistulae (one of them already mentioned above) ( Nogueira et al, 2016 ; Marinho et al, 2021 ). One case had Klinefelter syndrome ( Ekbote and Danda, 2012 ).…”