Developmental Malformations
Joubert syndrome
Jan. 19, 2024
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Ultrasound scan of pregnant woman in whom fetal anencephaly was diagnosed (3)
Scan performed using the transabdominal probe in 2D rendering in a 20-year-old gravida 1, para 0 woman at 25 weeks gestational age. Ultrasound diagnosis was anencephaly, confirmed at autopsy. Coronal cross-section. Cranial sonographic findings: "frog eyes." Amniotic fluid slightly echogenic. Yellow arrows: degenerated brain structures. 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.)