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MOPD type II is caused by mutations in the pericentrin (<jats:italic>PCNT<\/jats:italic>) gene, which encodes a protein involved in centrosomes function. We report a 2 year old girl affected by MOPD type II caused by two compound heterozygous loss\u2010of\u2010function variants in <jats:italic>PCNT<\/jats:italic> gene, of which one is a novel variant (c.5304delT; p.Gly1769AlafsTer34). The patient presented atypical brain magnetic resonance imaging (MRI) findings consistent with pachygyria. This was confirmed by morphometric analysis of cortical thickness (CT) and gyrification index by comparing MRI data of the patient with a group of eight age\u2010matched healthy controls. The statistical analysis revealed a significant and diffuse increase of CT with an anterior\u2010predominant pattern and diffuse reduced gyrification (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.05). These findings provide new evidences to the emergent concept that malformations of cortical development are complex disorders and that new genetic findings contribute to the fading of classification borders.<\/jats:p>","DOI":"10.1002\/ajmg.a.61771","type":"journal-article","created":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T14:42:15Z","timestamp":1596465735000},"page":"2372-2376","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Microcephalic osteodysplastic primordial dwarfism type <scp>II<\/scp> and pachygyria: Morphometric analysis in a 2\u2010year\u2010old girl"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2991-5840","authenticated-orcid":false,"given":"Maria C.","family":"Rossi\u2010Espagnet","sequence":"first","affiliation":[{"name":"Neuroradiology Unit, Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"},{"name":"Nesmos Department Sapienza University  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