Congenital Fibula Aplasia, Tibial Campomelia with Oligosyndactyly in an Infant (Fatco Syndrome): Ragiographic Findings and A Case Report

FATCO syndrome is a rare congenital limb malformation characterized by absence or hypoplasia of the fibula, aplasia or dysplasia of the tarsal bones, shortened or curved tibia (campomelia) and oligosyndactyly (missing or fused digit especially in the feet. The etiology is unknown but sporadic mutations are most likely with no consistent genetic pattern confirmed.

This is a three month old female infant that was referred for plain radiograph of the right leg on account of limb-length shortening and lateral deviation of the foot. The plain radiograph demonstrated complete absence of the right fibula (Fibula aplasia), shortening with anterior bowing of the tibia (campomelia), and absence of the 3rd and 4th metartasals and digits with fusion of the demonstrated 2nd and 3rd digits (oligosyndactyly). There is associated valgus deformity of the right ankle joint and foot. The contralateral left leg had normal appearances.

The presence of the above findings prompted the diagnosis of FATCO syndrome in a three month old female infant, hence the presentation of this case due to its rare occurrence, peculiar presentation and to review the literature.