Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.
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.