Prenatal diagnosis of femoral-facial syndrome: case report

Abstract

Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed.

Keywords: femoral hypoplasia; femoral hypoplasia-unusual facies syndrome; femoral-facial syndrome; fetal malformations; micrognathia; obstetrics; ultrasonography.