Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome

Abstract

Splenogonadal fusion limb defect syndrome (SGFLD) is a very rare abnormality. We report on a case with prenatal sonographic findings of a fetus with postnatally diagnosed SGFLD syndrome. This is also the second case of prenatal ultrasonographic diagnosis of gastrointestinal malrotation associated with SGFLD. A 26-year-old primigravid woman was referred to our clinic because of nonvisualization of both fetal femoral bones at 20 weeks of gestation. A detailed sonographic examination showed complete bilateral absence of lower limbs, micrognathia, single umbilical artery and a right-sided stomach. Autopsy confirmed prenatal sonographic findings and additionally showed that the spleen was abnormally connected to the left gonad by a fibrous band. In conclusion, although all limbs and both sides were equally affected in most of the reported cases, SGFLD syndrome should be considered in cases with terminal limb defects of lower limbs.

Splenogonadal fusion: Report of four cases and review of the literature

“…In cases of continuous SGF, ~50% are accompanied by other congenital malformations (7). The incidence rate for continuous SGF is five-fold higher than that of discontinuous SGF and most cases are accompanied by limb defect syndrome (8,9). Bonneau et al (10) reviewed 29 cases of splenogonadal fusion limb defect syndrome (SGFLD), of which 24 cases (82.7%) were continuous SGF, while 70% were associated with micrognathia.…”

Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester

“…Studies that compare ultrasound and autopsy findings are therefore important to establish highly accurate levels of prenatal diagnosis. Several studies have done so . However, a majority of these studies included fetuses from all gestational ages and were retrospective in nature.…”

Splenogonadal Fusion: A Genetic Disorder?—Report of a Case and Review of the Literature

“…Antenatal ultrasound diagnosis is reported in 2 cases. 2 Unusual cases of right SGF were also described. 3…”