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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.

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VATER association was firsts described as a combination of three or more of these defects: vertebral defects (V), anal atresia (A), esophageal atresia and/or tracheo-esophageal fistula (TE), and radial and renal anomalies (R standing for both of them). No specific cause has been identified and causal heterogeneity seems to be most acceptable conclusion. By the other hand, placental chorioangioma is a benign vascular tumor found in about 1% of pregnancies at routine histological examination of the placenta. Tumors that are large enough to produce clinical symptoms and that can be visualized on sonography are uncommon. Potential fetal complications include polyhydramnios, fetal hydrops, fetal growth restriction and fetal demise. No association has been described between chorioangioma and VATER association. Patient, 20 years old, followed in Fetal Medicine Service of UNIFESP/EPM, due to fetal malformation. The following findings were observed in ultrasound, using Sonoace 80 000 LIVE (Medison, Seoul, Korea): large intestine dilatation, horseshoe kidney, genital anomaly and ventricular septal defect. The fetal Magnetic Resonance confirmed these findings. No placental neoplasms were diagnosed on sonography or fetal Magnetic Resonance. During gestation also occurred oligoamnio and fetal growing restriction. Patient went to vaginal delivery by 37 weeks of gestation, newborn 2.260 g of weight, clinically with atresia anal and genital anomalies (micropenis and hypospadia). Colostomy was realized with 24 hours of life. After exams, horseshoe kidney, lombar hemivertebra L3, ventricular septal defect, pulmonary stenosis, patent foramen ovale were described. Kariotype 46 XY. At 39 th day of life, infant developed intestinal volvulus and infection. At 59 th day of life, infant died due to septic shock. Necropsy confirmed all alterations described. Histologic examination of placenta has found the presence of chorioangioma.