Malformations of ventral induction
Department of Radiology, Penn State Milton S. Hershey Medical Center, Penn State College of Medicine, Hershey, PA, USA.Seminars in Ultrasound CT and MRI (Impact Factor: 1.2). 06/2011; 32(3):200-10. DOI: 10.1053/j.sult.2011.02.012
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ABSTRACT: Structural malformations of the brain are an important cause of childhood mortality and morbidity, with the latter having long-term financial and psychosocial implications for the affected child and family. Holoprosencephaly (HPE) is a severe brain malformation characterized by abnormal cleavage of the prosencephalon in the 5th gestational week. Aprosencephaly and atelencephaly occur earlier because of failure in the formation of the prosencephalon and telencephalon, respectively. The HPE spectrum classically includes alobar, semilobar, and lobar forms, although there are no clear-cut defining features. The middle interhemispheric variant (MIH), also known as syntelencephaly, is classified as a variant of HPE with midline interhemispheric fusion. Other conditions sometimes included in the spectrum of HPE include septo-optic dysplasia (SOD); "minimal" HPE, which is associated with subtle craniofacial malformations and mild developmental delay; and microform HPE, which by definition excludes brain involvement. The focus of this article will be on the spectrum of findings visible in fetal manifestation of the HPE spectrum. Brain embryology; the imaging characteristics, epidemiology, and embryology of HPE; and the more common associated anomalies, particularly those of the face ("the face predicts the brain") are reviewed. Recognition of these anomalies is important for accurate parental counseling, since the prognosis is poor but not invariably lethal; children with the milder forms may live well into their teens with severe developmental delays, endocrine dysfunction, and disrupted homeostasis. Available data on outcome in surviving children are summarized. Illustrative fetal ultrasonographic and magnetic resonance images are presented with clinical, autopsy, and postnatal imaging correlation. (C) RSNA, 2015Radiographics 01/2015; 35(1):275-290. DOI:10.1148/rg.351140040 · 2.60 Impact Factor
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ABSTRACT: Congenital brain malformations are a major cause of morbidity and mortality in pediatric patients who are younger than 2 years. Optimization of patient care requires accurate diagnosis, which can be challenging as congenital brain malformations include an extensive variety of anomalies. Radiologic imaging helps to identify the malformations and to guide management. Understanding radiologic findings necessitates knowledge of central nervous system embryogenesis. This review discusses the imaging of congenital brain malformations encountered in patients who are younger than 2 years in the context of brain development. Copyright © 2015 Elsevier Inc. All rights reserved.Seminars in Ultrasound CT and MRI 02/2015; 36(2). DOI:10.1053/j.sult.2015.01.003 · 1.20 Impact Factor
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