Pyruvate carboxylase deficiency
Nov. 30, 2023
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Ultrasound scan of pregnant woman in whom fetal exencephaly was diagnosed (2)
Scan performed using the transabdominal probe in 2D rendering in a 29-year-old gravida 3, para 1 woman at 12 weeks gestational age. Ultrasound diagnosis was exencephaly, confirmed at autopsy. Sagittal cross-section. Cranial sonographic findings: disorganized brain tissue. Amniotic fluid anechoic. Yellow arrows: brain structures divided into lobes with uneven external contour. Blue arrows: orbits. Red arrows: bone edge on the border of calvarium defect. (Source: Szkodziak P, Krzyżanowski J, Krzyżanowski A, et al. The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages. Arch Gynecol Obstet 2020;302[3]:619-28. Creative Commons Attribution 4.0 International License, http://creativecommons.org/licenses/by/4.0.)