Abstract
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.
Highlights
Congenital limb deficiencies are common birth defects occurring in 1 in 2000 neonates, characterized by the aplasia or hypoplasia of bones of the limbs
We report on a newborn female with malformations consisting of fibular hypoplasia, tibial campomelia, and oligosyndactyly, a second fibular aplasia–tibial campomelia–oligosyndactyly (FATCO) variant case
Case Report We report on a case of fibular hypoplasia, tibial campomelia, and oligodactyly in a female neonate of one day old
Summary
Congenital limb deficiencies are common birth defects occurring in 1 in 2000 neonates, characterized by the aplasia or hypoplasia of bones of the limbs. We report on a newborn female with malformations consisting of fibular hypoplasia, tibial campomelia, and oligosyndactyly, a second FATCO variant case. Case Report We report on a case of fibular hypoplasia, tibial campomelia, and oligodactyly in a female neonate of one day old.
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