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首页> 外文期刊>Journal of Clinical Ultrasound: JCU >Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome.
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Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome.

机译：胎儿脾脏融合肢体缺损综合征胎儿的超声检查结果。

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摘要

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.
机译：脾脏融合性肢体缺损综合征（SGFLD）是非常罕见的异常。我们报道了一例具有出生后诊断为SGFLD综合征的胎儿的产前超声检查结果。这也是产前超声诊断与SGFLD相关的胃肠道旋转不良的第二例。由于在妊娠20周时未看到两个胎儿股骨，因此将一名26岁的原始孕妇转诊至我们的诊所。一项详细的超声检查显示双侧完全没有下肢，微乳晕，单条脐动脉和右侧胃。尸检证实了产前的超声检查结果，此外还显示脾脏通过纤维带异常连接至左性腺。总之，尽管在大多数报道的病例中所有肢体和两侧均受到相同的影响，但在下肢末梢肢体缺损的病例中应考虑SGFLD综合征。

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