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These features overlap with the phenotype of 1q43\u2010q44 deletion syndrome (OMIM #612337). There are several genes within the 1q43\u2010q44 deletion region, and <jats:italic>ZBTB18<\/jats:italic> is of particular interest due to its known involvement in neuronal differentiation and migration. We describe here a fetus presenting with an intrauterine growth restriction, diminished long bones growth, single umbilical artery, and a short corpus callosum. On mid pregnancy ultrasound, all biometric parameters including the corpus callosum were relatively small but still within the normal range. Only a targeted follow\u2010up during the third trimester, including neurosonographic and MRI exams, revealed the full extent of the malformation, leading to amniocentesis and a genetic workup that led to the identification of a de novo likely pathogenic variant in <jats:italic>ZBTB18<\/jats:italic> gene. This is the first description of the evolving phenotype of a <jats:italic>ZBTB18<\/jats:italic>\u2010related disorder in a fetus, which emphasizes the challenging diagnosis of subtle findings, that mandates a high level of clinical suspicion and a targeted follow\u2010up throughout pregnancy.<\/jats:p>","DOI":"10.1002\/ajmg.a.62599","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T05:50:54Z","timestamp":1639547454000},"page":"978-983","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal diagnosis of a likely pathogenic variant in <i>ZBTB18<\/i>: Natural evolution of fetal phenotype including the long bones and corpus callosum"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1073-6348","authenticated-orcid":false,"given":"Roee","family":"Birnbaum","sequence":"first","affiliation":[{"name":"Division of OB\u2010GYN Ultrasound, Lis 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