Prenatal diagnosis of femoral hypoplasia-unusual facies syndrome associated to sacral hemivertebra
Journal Title: Clinical and Experimental Obstetrics & Gynecology - Year 2019, Vol 46, Issue 1
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.
Authors and Affiliations
R. Garcia Rodriguez, B. Vega Guedes, L. Obreros Zegarra, Y. Emergui Zhrizen, C. Cabrera García, M. Medina Castellano, J. Á. Garcia Hernández
Keywords
Related Articles
- EP ID EP618531
- DOI 10.12891/ceog4329.2019
- Views 54
- Downloads 0
Improvement of concomitant symptoms of pelvic organ prolapsed with applied pessary
Introduction: A common disorder among elderly ladies which causes urinary, gastrointestinal, sexual, and local symptoms is pelvic organ prolapse (POP). Two methods that include surgical and non-surgical (conservative) fo...
Anti-N-methyl-D-aspartate receptor encephalitis associated with a tiny ovarian teratoma diagnosed by exploratory laparoscopy: report of two cases
Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is the most common form of paraneoplastic encephalitis that is associated with teratomas. Because removal of the tumor leads to better clinical outcomes, determining...
Pregnancy outcome of recurrent spontaneous abortion in Wilson’s disease after decoppering therapy
Purpose of Investigation: To report pregnancy outcome after decoppering therapy in patients with recurrent spontaneous abortion (RSA) and Wilson’s disease (WD). Materials and Methods: In a retrospective study, 12 WD pati...
Double cervix, septate uterus, and longitudinal vaginal septum: a rare Müllerian anomaly with leiomyoma of the uterus
Objective: To discuss a rare anomaly, double cervix, septate uterus, and longitudinal vaginal septum with a leiomyoma of the uterus. Case Report:A case of double cervix, septate uterus, and longitudinal vaginal septum th...
Cornual pregnancy with placenta percreta and uterine rupture at 19 weeks' gestation
Cornual pregnancy is a challenging situation which can threaten the life of the patient if underestimated. The authors present a case of a 19-week angular pregnancy with hemoperitoneum caused by placenta percreta and ute...