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More than 30% of syndromic diseases are associated with craniofacial defects, which are important for the precise diagnosis of systemic diseases. Special AT\u2010rich sequence\u2010binding protein 2 (<jats:italic>SATB2)<\/jats:italic>\u2010associated syndrome (SAS) is a rare syndromic disease associated with a wide variety of phenotypes, including intellectual disability and craniofacial defects. Among them, dental anomalies are the most frequently observed phenotype and thus becomes an important diagnostic criterion for SAS. In this report, we demonstrate three Japanese cases of genetically diagnosed SAS with detailed craniofacial phenotypes. The cases showed multiple dental problems, which have been previously reported to be linked to SAS, including abnormal crown morphologies and pulp stones. One case showed a characteristic enamel pearl at the root furcation. These phenotypes add new insights for differentiating SAS from other disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.63225","type":"journal-article","created":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T18:43:29Z","timestamp":1683225809000},"page":"1984-1989","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed <scp><i>SATB2<\/i><\/scp>\u2010associated syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8956-5467","authenticated-orcid":false,"given":"Hiroshi","family":"Kurosaka","sequence":"first","affiliation":[{"name":"Department of Orthodontics and Dentofacial Orthopedics Osaka University Graduate School of Dentistry  Suita 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