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

J Clin Ultrasound. 2009 Jun;37(5):298-301. doi: 10.1002/jcu.20557.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / embryology
  • Abortion, Eugenic
  • Adult
  • Autopsy
  • Ectromelia / diagnostic imaging*
  • Ectromelia / embryology
  • Female
  • Gonads / abnormalities*
  • Gonads / diagnostic imaging*
  • Gonads / embryology
  • Humans
  • Pregnancy
  • Pregnancy Trimester, Second
  • Spleen / abnormalities*
  • Spleen / diagnostic imaging*
  • Spleen / embryology
  • Ultrasonography, Prenatal*