Femoral facial syndrome with bilateral agenesis of femora and preaxial polydactyly of the feet in a Chinese stillborn

A female Chinese stillborn with clinical characteristics of femoral facial syndrome is described. Apart from the typical facial features of the syndrome like short nose with broad tip, up-slanting palpebral fissures, cleft lip and cleft palate, micrognathia, and bilateral hypoplastic and malformed pinnae, the case had two rare findings, complete absence of both femora, and preaxial polydactyly in the feet. The combination of these two findings in a single patient had not been reported before. This report also reiterates the rare association between preaxial polydactyly and the femoral facial syndrome.