Prenatal diagnosis of femoral-facial syndrome: report of two cases

Abstract

Background: Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facial syndrome (FHUFS) is a rare disorder, which has been more frequently described in females. Only a few cases diagnosed prenatally have been reported so far in the literature. FFS is characterized by femoral hypoplasia and various facial abnormalities, which can be associated with a variety of other malformations

Cases: In this report, we present two male fetuses which were diagnosed with FFS after detection of short femora, micrognathia, and other anomalies by ultrasonography at the age of 14 and 16 weeks, respectively. The sonographic findings were confirmed at autopsy. The differential diagnosis of FFS with other disorders characterized by hypoplastic femora is discussed

Conclusion: FFS represents a severe condition; hence, the importance of an early prenatal diagnosis, especially in light of offering counseling for affected parents.

Keywords: femoral hypoplasia-unusual facial syndrome; femoral-facial syndrome; micrognathia; ultrasonography.