Rhombencephalosynapsis is a rare congenital intracranial malformation with very few cases reported in literature. Partial rhombencephalosynapsis is a variation of this anomaly with fewer reported cases. We present the case of a patient with Chiari II malformation mimicking partial rhombencephalosynapsis.
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Giant encephalocele in newborns: prenatal diagnosis, management and outcome.
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Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Objective: While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.
Methods: An institutional database was retrospectively queried for all pediatric patients with VACTERL association.
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Department of Neurosurgery, IRCSS Humanitas Research Hospital, Via Alessandro Manzoni 56, 20089 Rozzano, Milan, Italy.
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Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
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Characterizing the In Utero Phenome of the Chiari II Malformation-A Network Medicine Approach, Using Fetal MRI.
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Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
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