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  • Title: Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation.
    Author: Parazzini C, Righini A, Lalatta F, Bianchini E, Triulzi F.
    Journal: Prenat Diagn; 2005 Jun; 25(6):489-91. PubMed ID: 15966042.
    Abstract:
    OBJECTIVE: To describe an unreported brain malformation with in utero onset. METHODS: A 21-weeks-of-gestational-age fetus underwent prenatal MR imaging because of macrocephaly detected by ultrasound. Prenatal MR imaging revealed a complex brain malformation. At 22 weeks of GA, pregnancy was terminated; an MR autopsy study was also performed. RESULTS: MR imaging revealed frontal bilateral megalencephaly and malformation of cortical development, suggesting polymicrogyria. These findings do not fit into any of the known megalencephalic syndromes. CONCLUSIONS: To our knowledge, this is a previously unreported malformation. Fetal and autoptic MR examination have been the best tools in understanding this complex brain pathology, allowing a more complete genetic counseling.
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