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Clinical and Experimental Obstetrics & Gynecology  2019, Vol. 46 Issue (1): 131-135    DOI: 10.12891/ceog4329.2019
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Prenatal diagnosis of femoral hypoplasia-unusual facies syndrome associated to sacral hemivertebra
R. Garcia Rodriguez1, *(), B. Vega Guedes1, R. Garcia Delgado1, L. Obreros Zegarra1, Y. Emergui Zhrizen1, C. Cabrera García1, M. Medina Castellano1, J. Á. Garcia Hernández1
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
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Abstract  
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     
Published:  10 February 2019     
*Corresponding Author(s):  R. GARCIA RODRIGUEZ     E-mail:  raquelgarciarod@gmail.com

Cite this article: 

R. Garcia Rodriguez, B. Vega Guedes, R. Garcia Delgado, L. Obreros Zegarra, Y. Emergui Zhrizen, C. Cabrera GarcÁa, M. Medina Castellano, J.Á. Garcia Hernández. Prenatal diagnosis of femoral hypoplasia-unusual facies syndrome associated to sacral hemivertebra. Clinical and Experimental Obstetrics & Gynecology, 2019, 46(1): 131-135.

URL: 

https://ceog.imrpress.com/EN/10.12891/ceog4329.2019     OR     https://ceog.imrpress.com/EN/Y2019/V46/I1/131

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