Peripheral Neuropathies
Charcot-Marie-Tooth disease type 1B and other CMT neuropathies associated with MPZ mutations
Dec. 11, 2023
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Ultrasound scan of pregnant woman in whom fetal acrania was diagnosed (4)
Scan performed using the transabdominal probe in 3D rendering in a 25-year-old gravida 1, para 0 woman with prior Cesarean section at 13 weeks gestational age with cytomegalovirus infection. Ultrasound diagnosis was acrania, confirmed at autopsy. Sagittal cross-section. Amniotic fluid anechoic. Yellow arrows: brain structures covered with rippling thin membrane similar to meninges--the “beret” sign. 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.)