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- W3207422879 abstract "A 28-year-old G3A1E1 pregnant woman without any relevant personal or family history. At week 21, a morphological ultrasound was performed showing bilateral hemimelia with both femurs and tibias below 5th centile, bilateral fibular aplasia and malpositioned feet: left foot with forced extension on the tibia and right foot with forced flexion on the tibia, being difficult to identify the toes and being unable to rule out syndactyly or agenesis of some toes. No other major morphological anomalies were observed. Given the findings, a diagnosis of suspected FATCO syndrome was made. The patient did not want to run diagnostic invasive techniques nor interrupt the pregnancy. She provides a non-invasive test in a private clinic with a low risk result for the chromosomal diseases studied. Subsequently, the patient continues follow up until week 36, with adequate fetal growth but persisting both femurs and tibiae < p5, malpositioned feet and bilateral fibula aplasia. At week 39 the patient had an eutocic delivery of a 2635g male newborn, with the findings described prenatally and an agenesis of 3 toes of each foot. Congenital limb deficiencies are common birth defects occurring in 1/2000 neonates, characterised by aplasia or hypoplasia of limb's bones. The term fibular hemimelia encompasses a spectrum of disease from mild fibular hypoplasia (FH) to fibular aplasia. It commonly occurs unilaterally, isolated, and sporadic with unknown cause. However, FH may be part of a FATCO syndrome consisting of fibular aplasia, tibial campomelia and oligosyndactyly, with normal mental development and no facial dysmorphism. It is a syndrome with unknown inheritance. An adequate prenatal diagnosis of suspected FATCO syndrome is important to inform parents about the prognosis at birth. In addition, a multidisciplinary approach together with pediatric traumatologists is essential to evaluate the different therapeutic alternatives. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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- W3207422879 date "2021-10-01" @default.
- W3207422879 modified "2023-10-12" @default.
- W3207422879 title "VP16.11: FACTO syndrome" @default.
- W3207422879 doi "https://doi.org/10.1002/uog.24279" @default.
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