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Hitherto, only isolated cortical malformations have been described with <jats:italic>TUBA1A<\/jats:italic> mutation, including microlissencephaly, lissencephaly, central pachygyria and polymicrogyria\u2010like cortical dysplasia, generalized polymicrogyria cortical dysplasia, and\/or the \u201csimplified\u201d gyral pattern. The neuropathology of our fetal cases shows several common features of tubulinopathies, in particular, the dysmorphism of the basal ganglia, as the most pathognomonic sign. The cortical ribbon anomalies were extremely severe and concordant with the complex cortical malformation. In conclusion, we broaden the phenotypic spectrum of <jats:italic>TUBA1A<\/jats:italic> variants, to include FADS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62866","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T10:51:23Z","timestamp":1654858283000},"page":"2331-2338","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Broadening the phenotypic spectrum of <i>TUBA1A<\/i> tubulinopathy to syndromic arthrogryposis multiplex congenita"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2968-0540","authenticated-orcid":false,"given":"Mathilde","family":"Weber","sequence":"first","affiliation":[{"name":"Unit of Embryo\u2010Fetal Pathology AP\u2010HP, Antoine B\u00e9cl\u00e8re Hospital  Clamart France"},{"name":"Department of Obstetrics and Gynecology AP\u2010HP, Antoine B\u00e9cl\u00e8re Hospital  Clamart 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