Department of Pharmaceutical Sciences, Faculty of Medicine and Pharmacy, Lower Danube University of Galaţi, Romania;
Rom J Morphol Embryol. 2024 Jan-Mar;65(1):125-129. doi: 10.47162/RJME.65.1.16.
Acrania is a fetal malformation characterized by complete or partial absence of the calvaria above the orbits and supraciliary ridge. No exact mechanism is demonstrated for this anomaly but disturbances in mesenchymal migration during the fourth week of development are the most documented. The key sonographic features of acrania are absent calvaria and dorsally bulging brain (Mickey Mouse head). Due to the normal process of ossification of cranial bones, the diagnosis can be established only after 11 weeks of gestation. Early detection is extremely important. The prognosis is extremely poor so elective termination of pregnancy is the treatment of choice. In this paper, we discuss the things we know about pathogeny and ultrasonographic features of fetal cranial malformations based on a case diagnosed late during gestation.
颅缝早闭是一种以眼眶和眉弓上方的颅骨完全或部分缺失为特征的胎儿畸形。虽然目前还没有明确的发病机制，但在胚胎发育的第 4 周，间充质迁移紊乱被认为是最主要的原因。颅缝早闭的超声特征主要有颅骨缺失和脑背侧膨出（“米老鼠头”）。由于颅骨正常的骨化过程，在妊娠 11 周后才能做出明确诊断。早期发现非常重要，因为该病预后极差，因此选择终止妊娠是最佳治疗方法。本文通过一个妊娠晚期确诊的病例，讨论了胎儿颅面畸形的发病机制和超声特征。
