PMC5568004_01
Obstetric ultrasound; a): axial section of the fetal abdomen, omphalocele with gray content (star), surrounded by a thin wall where passes the umbilical vein; The collar measures : 1.5 cm (dotted); b): in strict sagittal section of the fetus, abrupt interruption of the dorsal spine with no visualization of the lumbosacral and coccygeal segments (arrow); c): centered on the right lower limb, anomaly of the echogenicity of the lower limb with dedifferentiation of the musculoskeletal plans (arrows)
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It revealed an anterior medial mass of the anterior abdominal wall, well limited, surrounded by a thin membrane where passes the umbilical vein (Figure 1 a). Indeed, there was an agenesis of lumbar vertebrae, sacral and coccygeal on the axial (Figure 1 a) and sagittal sections (Figure 1 b). The lower limbs were frozen, of echo structure distinctly different from that of the upper limbs with bone segments little echogenic (Figure 1 c).
Fetal MRI in SE T2, in strict sagittal section confirming the agenesis of the lumbosacral spine (arrow); the omphalic sac is also visualized (star)
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A fetal MRI was then performed (Figure 2).
Photograph of the newborn: omphalocele containing digestive loops (star); appearance in frog of the two lower limbs with right clubbed foot (arrow)
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The omphalocele was found to be 10 cm in diameter (Figure 3).
Postnatal thoracoabdominal X-ray: there are 12 dorsal vertebrae of normal morphology, with total agenesis of the lumbosacral spine (arrow); the omphalic sac containing digestive clarity
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The thoraco-abdominal radiograph showed cardiomegaly, digestive clarity in the omphalocele and lumbo-sacrococcygeal agenesis (Figure 4).