VP16.06: Prenatal diagnosis of FATCO syndrome: report of three cases – ultrasound findings, differential diagnoses and treatment

Abstract

FATCO syndrome – fibular aplasia, tibial campomelia and oligosyndactyly – is a group of bone malformations compromising lower limbs. It is a rare association with few cases described in the international literature, whose diagnosis is made especially postnatally. The objective is to describe a series of cases of FATCO syndrome with prenatal suspicion detected between 2019-2021 at DIAGNUS prenatal diagnosis centre, Córdoba, Argentina. Case 1: gestational age 21 + 3. Insulin dependent diabetes. Ultrasound: marked shortening and curving of the left tibia with preserved ossification; lack of visualisation of the ipsilateral fibula, left foot rotation, probable syndactyly versus oligodactyly, gender: male. Currently pregnant. Case 2: gestational age 28 + 6. Ultrasound: right fibular hemimelia, shortening and bowing of the ipsilateral tibia, absence of ossification nuclei of some metatarsal bones, gender: female. Findings confirmed postnatally, undergoing orthopedic treatment. Case 3: gestational age 25 + 4. Ultrasound: shortening of both lower limbs, predominantly left, bilateral fibular aplasia, left femoro-tibial campomelia, oligoectrodactyly in both feet, gender: male. Postnatal confirmed findings. Also in orthopedic treatment. None of the cases had other detectable structural abnormalities. In conclusion, FATCO syndrome should be considered when peroneal hemimelia is seen prenatally. 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.