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A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6\/24), seizures of unknown etiology (5\/24), and unilateral weakness (3\/24). More than half (13\/24) of the patients had significant radiographic findings, including persistent cavum septi pellucidi and\/or cavum vergae (8\/24), aberrant cortical veins (6\/24), polymicrogyria or cortical dysplasia (4\/24), inner ear deformities (3\/24), hypoplastic internal carotid artery (2\/24), and hypoplastic cerebellum (1\/24). These findings reveal the types and frequencies of brain malformations in this case series, and suggest that the prevalence of neuroanatomical abnormalities in 22q11.2DS may be underestimated. Understanding indications for imaging and frequently encountered brain malformations will result in early diagnosis and intervention in an effort to optimize patient outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38304","type":"journal-article","created":{"date-parts":[[2017,6,3]],"date-time":"2017-06-03T13:16:39Z","timestamp":1496495799000},"page":"2158-2165","source":"Crossref","is-referenced-by-count":31,"title":["Neuroradiographic findings in 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3775-8424","authenticated-orcid":false,"given":"Lauren A.","family":"Bohm","sequence":"first","affiliation":[{"name":"University of Minnesota Minneapolis Minnesota"},{"name":"ENT and Facial Plastic Surgery Children's Minnesota, Children's Specialty Center Minneapolis Minnesota"},{"name":"Division of Pediatric Otolaryngology University of Michigan Ann Arbor 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