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• W2897332927 abstract "To present different brain anomalies manifesting in utero with a kinked brainstem (KB) demonstrated by ultrasound in the mid-sagittal plane. All fetuses were evaluated by multiplanar neurosonography. Five fetuses with a KB were identified at 15-23 gestational weeks (GW). Associated CNS abnormalities included: ventriculomegaly (VM) (4 cases, 3 mild and 1 severe), complete or partial agenesis of corpus callosum (ACC) (4), abnormal or delayed cortical development (4), vermian hypoplasia (VH) (4). A fetus with KB and mild VM, absent Sylvian fissures, partial ACC, dysmorphic and enlarged tectum, and a small upward rotated vermis at 19 GW was diagnosed as having cobblestone malformation confirmed by autopsy. A fetus with KB and underdeveloped cerebral hemispheres, mild VM, complete ACC, thin pons, and VH at 19 GW was presumed to have a tubulinopathy. Autopsy confirmed the prenatal findings, cortical histology was normal for gestational age. A male fetus with KB and a thick nuchal fold, pelvic kidney, severe VM and absent CSP at 22 GW was presumed to have L1 syndrome. The autopsy revealed complete ACC, KB, hypoplastic corticospinal tracts, and fragmented dentate nuclei. Cortical histology was normal for gestational age. A fetus with KB and occipital encephalocele, polycystic kidneys, and postaxial polydactyly at 17 GW was diagnosed as having Meckel-Gruber syndrome. This was the second pregnancy of consanguineous parents, the previous one was terminated for identical malformations, confirmed by autopsy. A fetus with KB and a dorsal cyst, a small dysplastic vermis associated with cystic dilatation of the fourth ventricle at 19 GW was diagnosed as having alobar holoprosencephaly. Brainstem kinking is a rare fetal neuroimaging finding that has been reported mainly in α-dystroglycanopathies. Our cases indicate that a KB can be associated with a spectrum of severe CNS malformations, being the earliest manifestation in some of them. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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• W2897332927 date "2018-10-01" @default.
• W2897332927 modified "2023-10-03" @default.
• W2897332927 title "EP08.20: Kinked fetal brainstem: an early sign of severe CNS malformations" @default.
• W2897332927 doi "https://doi.org/10.1002/uog.19905" @default.
• W2897332927 hasPublicationYear "2018" @default.
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