Identification of some novel variants assocaited to FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly)

FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next generation sequencing is enabling the diagnosis of diseases with no previously known genetic cause. We performed a thorough autopsy on a fetus whose pregnancy was legally terminated due to severe malformations detected by ultrasound. A trio exome was run to identify the genetic cause and risk of recurrence