We describe the perinatal findings in a female fetus with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Prenatal sonography performed during 18-21 weeks' gestation showed a normal amount of amniotic fluid, but the fetus was seen to have a persistently distended stomach, a hugely
Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome
โ Scribed by Mustafa Basbug; Hulya Akgun; Mahmut Tuncay Ozgun; Cagdas Turkyilmaz; Cem Batukan; Bulent Ozcelik
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 172 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0091-2751
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โฆ Synopsis
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 26โyearโold 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 rightโsided 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. ยฉ 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009
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