FATCO Syndrome Research Articles

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

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.

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

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.

FATCO syndrome: a case of prenatal diagnosis in the second trimester of pregnancy

A case of prenatal ultrasound diagnosis of congenital limb defect with combined features fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) at 20+4 weeks of gestation is presented. Diagnosis was completely verified macroscopically and with X-ray investigation after termination of the pregnancy at 21+4 weeks of gestation.

“Congenital Foot Deformity in Caravaggio’s Scholar Painting: A Likely Diagnosis of FATCO Syndrome”

“Congenital Foot Deformity in Caravaggio’s Scholar Painting: A Likely Diagnosis of FATCO Syndrome”

Síndrome de FATCO (aplasia fibular, campomelia de tibia y oligosindactilia) en paciente masculino: reporte de caso

Among the multiple birth defects is fibular aplasia, which is a rare congenital frequency that is part of a low prevalence syndrome called FATCO, fibular aplasia (fibular aplasia), campomelia of the tibia (Campomelia tibial) and oligosyndactyly (Oligosyndactyly). We present the case of a male man of 31 months of age evaluated in the courtesy and prosthesis consultation in a rehabilitation house in the city of Bogota, Colombia, with a history of FATCO syndrome and the family history of malformations abroad. Given the paucity of reports on this rare syndrome and the lack of a standardized treatment approach, evaluation of the prosthetic rehabilitation process is important.

A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report.

Congenital limb deficiencies are common birth defects occurring in 1 in 2000 neonates, characterized by the aplasia or hypoplasia of bones of the limbs. Fibular hemimelia is a rare congenital deficiency or absence of the fibula. The disease spectrum ranges from mild fibular hypoplasia to fibular aplasia. Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) are purely descriptive terms for a syndrome of unknown genetic basis and inheritance.We report on a newborn female with malformations consisting of fibular hypoplasia, tibial campomelia, and oligosyndactyly, a second FATCO variant case. We also review previously reported cases. Given the paucity of reports on this rare syndrome and the lack of a standardized treatment approach, it is important that each case of FATCO syndrome is reported.

FATCO syndrome: a new case and review of the literature

FATCO syndrome: a new case and review of the literature

A Japanese Male Patient with Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report

We report a male infant with FATCO syndrome, an acronym for fibular aplasia, tibial campomelia, and oligosyndactyly. Courtens et al. reported an infant with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. They noted 5 patients with similar clinical features, and proposed the FATCO syndrome. Our patient had a left-sided cleft lip, cleft palate, oligosyndactyly of the right hand and bilateral feet, and bilateral anterior bowing of the limbs associated with overlying skin dimpling. Radiographs showed a short angulated tibia with left fibular aplasia and right fibular hypoplasia. We consider our case the 6th patient with FATCO syndrome, and the cleft lip and palate, not reported in the previous 5 patients, may allow us to further understand the development of the extremities and facies.