{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T23:16:45Z","timestamp":1788650205997,"version":"build-2803163510"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T00:00:00Z","timestamp":1685491200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuroimaging"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Purpose<\/jats:title><jats:p>Autosomal recessive cobblestone\u2010like cortical malformation of the brain, with no eye or muscle involvement, has been reported in patients with biallelic mutations in ADGRG1 (formerly GPR56) and in other brain surface defects (eg, variants in COL3A1). We reported the intra\u2010uterine brain MRI (iu\u2010MRI), post\u2010mortem MRI (pm\u2010MRI), and neuropathology findings of a new ADGRG1 mutation in a fetus at early gestation. Imaging findings were compared with those of the sibling harboring the same mutation, to provide insights about the evolving morphology of such malformation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 21\u2010week fetus underwent iu\u2010MRI for a suspected cortical anomaly on ultrasound. After the MRI results, the termination of the pregnancy was carried out. A pm\u2010MRI scan and autopsy were performed. A neuropathology\u2010imaging correlation was achieved. The 5\u2010year old sibling affected by developmental impairment also underwent a brain MRI. Both subjects underwent a genetic investigation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two patterns of abnormality of the cerebral surface were identified on both fetal MRI: one at the vertex resembling a cobblestone\u2010cortex due to neuronal overmigration into the subarchnoid space and the other in the occipital areas resembling polymicrogyria. These details closely matched the neuropathology findings. MRI findings of the sibling consisted of typical ADGRG1\/GPR56\u2010related brain findings showing a polymicrogyric\u2010like cortex, also reported as bilateral frontal\u2010parietal polymicrogyria. A flattened pons and small cerebellar vermis were present in both cases.<\/jats:p><jats:p>Genetic testing demonstrated a novel homozygous variant c.1484T&gt;C in the c gene in both cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings provide further evidence of the overlap of ADGRG1\/GPR56\u2010related brain dysgenesis with cobblestone\u2010like cortical malformation of the brain.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jon.13130","type":"journal-article","created":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T04:49:40Z","timestamp":1685594980000},"page":"527-533","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cobblestone\u2010like brain malformation with a new bi\u2010allelic ADGRG1 (GPR\u201056) mutation: Fetal imaging\u2010pathology 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