Prenatal diagnosis of femoral hypoplasia-unusual facies syndrome associated to sacral hemivertebra

Abstract

Prenatal diagnosis of femoral hypoplasia-unusual facies syndrome associated to sacral hemivertebra R. Garcia Rodriguez, B. Vega Guedes, R. Garcia Delgado, L. Obreros Zegarra, Y. Emergui Zhrizen, C. Cabrera García, M. Medina Castellano, J.Á. Garcia Hernández Prenatal Diagnosis and Fetal Medicine Unit. Obstetrics and Gynecology Department of the Complejo Hospitalario Universitario Insular Materno Infantil de Canarias. Avda Marítima del Sur, Las Palmas de Gran Canaria (Spain) Summary Femoral hypoplasia-unusual facies syndrome (FH-UFS), also known as femoral-facial syndrome, is an extremely rare condition. The diagnostic criteria for this entity include: femoral hypoplasia in association with facial dysmorphism. Its pathogenesis is unknown. However, it has been associated with insulin-dependent diabetes mellitus during pregnancy. The present is a case of a pregnant woman with type-2 diabetes mellitus with a 17-year disease course without associated complications. The first-trimester screening ultrasound study revealed a female fetus with micrognathia and low-set ears. On week 22+4 of pregnancy, ultrasound showed a fetus with micrognathia, bilateral femoral agenesis, and hemivertebra at the S3-S4 level associated with a skin defect at the same level. Key words: Micrognathia; Femoral agenesis; Diabetes mellitus.