Femur-Fibula-Ulna Syndrome

Neither familial occurrence nor associated exogenous factors have been identified. When cases of femoral defects associated with malformations of the arms are collected, a highly specific pattern of rare arm defects are found, such as amelia, peromelia at the lower end of the humerus, humeroradial synostosis, and defects of the ulna and ulnar rays (Kuhne et al., 1967). This disorder of the femurs has been called PFFD (proximal focal femoral deficiency) in this country (Aitken, 1969) and is probably heterogeneous. Lenz (1977) stated that he had collected more than 350 cases and found no familial occurrence or parental consanguinity. Lenz et al. (1993) analyzed 491 cases; only 1 family had 2 affected sibs. Another case of familial occurrence was reported by Zlotogora et al. (1983). Richieri-Costa and Opitz (1986) reported FFU in 1 of monozygotic twins. Capece et al. (1994) diagnosed the FFU complex at 24 weeks of gestation by ultrasonography.