IMR Press / CEOG / Volume 46 / Issue 1 / DOI: 10.12891/ceog4329.2019

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 as a courtesy and upon agreement with S.O.G.

Open Access Case Report
Prenatal diagnosis of femoral hypoplasia-unusual facies syndrome associated to sacral hemivertebra
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1 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
*Correspondence: (R. GARCIA RODRIGUEZ)
Clin. Exp. Obstet. Gynecol. 2019, 46(1), 131–135;
Published: 10 February 2019

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.

Femoral agenesis
Diabetes mellitus
Figure 1.
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