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We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co\u2010twins with abnormal brain imaging and compared them to population\u2010based data and to a literature series. We separated our series into malformations of cortical development (MCD,<jats:italic>N<\/jats:italic>\u00a0=\u200939), cerebellar malformations without MCD (<jats:italic>N<\/jats:italic>\u00a0=\u200913), and brain disruptions (<jats:italic>N<\/jats:italic>\u00a0=\u200911). The MCD group included 37\/39 (95%) with polymicrogyria (PMG), 8\/39 (21%) with pia\u2010ependymal clefts (schizencephaly), and 15\/39 (38%) with periventricular nodular heterotopia (PNH) including 2 with PNH but not PMG. Cerebellar malformations were found in 19 individuals including 13 with a cerebellar malformation only and another 6 with cerebellar malformation and MCD. The pattern varied from diffuse cerebellar hypoplasia to classic Dandy\u2013Walker malformation. Brain disruptions were seen in 11 individuals with hydranencephaly, porencephaly, or white matter loss without cysts. Our series included an expected statistically significant excess of monozygotic (MZ) twin pairs (22\/41 MZ, 54%) compared to population data (482\/1448 MZ, 33.3%;<jats:italic>p<\/jats:italic>\u00a0=\u2009.0110), and an unexpected statistically significant excess of dizygotic (DZ) twins (19\/41, 46%) compared to the literature cohort (1\/46 DZ, 2%;<jats:italic>p<\/jats:italic>\u00a0&lt;\u2009.0001. Recurrent association with twin\u2013twin transfusion syndrome, intrauterine growth retardation, and other prenatal factors support disruption of vascular perfusion as the most likely unifying cause.<\/jats:p>","DOI":"10.1002\/ajmg.a.61972","type":"journal-article","created":{"date-parts":[[2020,11,18]],"date-time":"2020-11-18T14:38:33Z","timestamp":1605710313000},"page":"2690-2718","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["The spectrum of brain malformations and disruptions in twins"],"prefix":"10.1002","volume":"185","author":[{"given":"Kaylee B.","family":"Park","sequence":"first","affiliation":[{"name":"University of Washington School of Medicine Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Chapman","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Washington School of Medicine Seattle Washington 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Unit Universitair Ziekenhuis Brussel Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree A.","family":"Marshall","sequence":"additional","affiliation":[{"name":"Department of Anatomic Pathology and Neuropathology University of Washington School of Medicine Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renske","family":"Oegema","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht Department of Genetics Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Parrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories Meyer Children's Hospital, University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell P.","family":"Saneto","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington School of Medicine Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia J.","family":"Curry","sequence":"additional","affiliation":[{"name":"Genetic Medicine, Department of Pediatrics University of California San Francisco Fresno California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith G.","family":"Hall","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics and Pediatrics University of British Columbia and BC Children's Hospital Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories Meyer Children's Hospital, University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Leventer","sequence":"additional","affiliation":[{"name":"Department of 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