Femur-Fibula-Ulna (FFU) complex at 33 weeks of gestation: Ultrasonography,radiology, pathology and differential diagnosis by a case report

We present a case of a 27 year old 1. gravida, 1. para. Despite of regular ultrasonograhpic examination the diagnosis of sceletal malformation at the fetus was not before 33. weeks of gestation. It was the rare type of a both side femur-fibula-ulna (FFU) complex. The FFU-complex is a no lethal malformation with typical unilateral combina tion from defects of femur and fibula, with contralateral defect of ulna. D ependent to involment of malformated limbs the FFU-complex is classifiable in four groups. Only in 10% all limbs are affected. Our case (type IV) show ed a peromelia of both upper limbs with stumps of humeri, bothside aplasia of fibula and missing from 4. and 5. toes. There fetus were without nonlimb congenital abnormalities. The etiology of FFU-complex is unknown, the occurence sporadic. There are n ever found genetic abnormalities. Familial recurrence is not described. The re is no maternal or paternal age effect on FFU-complex. The differential d iagnosis must include malformations with reduction anomalies of extremities , like thalidomide syndrome, splenogonadal fusion with limb malformations, Roberts syndrome, oroacral complex or acheiropodia. Mark off are amniotic b and too.