Bogdan Ioan Ştefănescu, Tiberiu Ioan Mihalache, Georgiana Bianca Constantin, George Ţocu, Miruna Maria Ştefănescu, Roxana Elena Bogdan Goroftei
{"title":"Fetal acrania diagnosed at 17 weeks of gestation by 2D∕3D ultrasound: a case report and literature review.","authors":"Bogdan Ioan Ştefănescu, Tiberiu Ioan Mihalache, Georgiana Bianca Constantin, George Ţocu, Miruna Maria Ştefănescu, Roxana Elena Bogdan Goroftei","doi":"10.47162/RJME.65.1.16","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":54447,"journal":{"name":"Romanian Journal of Morphology and Embryology","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146448/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Romanian Journal of Morphology and Embryology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.47162/RJME.65.1.16","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DEVELOPMENTAL BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍:
Romanian Journal of Morphology and Embryology (Rom J Morphol Embryol) publishes studies on all aspects of normal morphology and human comparative and experimental pathology. The Journal accepts only researches that utilize modern investigation methods (studies of anatomy, pathology, cytopathology, immunohistochemistry, histochemistry, immunology, morphometry, molecular and cellular biology, electronic microscopy, etc.).