The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient

Femoral-facial syndrome (FFS) is an exceedingly rare congenital disorder of unknown etiology related to maternal diabetes during pregnancy. It is characterized by variations of bilateral femoral hypoplasia and facial anomalies. We discuss an interesting case of a 3-year-old girl with FFS with an extensive surgical history who presented to a pediatric orthopaedic clinic with ankle pains and absent femurs. As this disease process is not frequently encountered, it is imperative for the practicing clinician to be aware of the various presentations. In this study, we discuss the different orthopaedic presentations in the literature and discuss various management recommendations.