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Among the more than 70 genes associated with AI,\n                    <jats:italic>FAM83H<\/jats:italic>\n                    is the only gene known to cause autosomal dominant hypocalcified AI (ADHCAI). Recent studies have shown that causative variants in\n                    <jats:italic>FAM83H<\/jats:italic>\n                    disrupt amelogenesis and may also affect dental follicle cells, potentially leading to tooth impaction in ADHCAI patients. Here, we report two unrelated Brazilian patients with ADHCAI who present a distinctive and severe phenotype characterized by delayed eruption, multiple impacted teeth, and pre-eruptive crown resorptions (PECR). Longitudinal radiographic analysis revealed multiple unerupted teeth with progressive PECR. Using whole-exome sequencing, we identified two nonsense heterozygous\n                    <jats:italic>FAM83H<\/jats:italic>\n                    causative variants (c.1055\u00a0C\u2009&gt;\u2009A, p.Ser352*; c.1379G\u2009&gt;\u2009A, p.Trp460*). Our findings represent the first report of\n                    <jats:italic>FAM83H<\/jats:italic>\n                    -related ADHCAI in Brazilian families and expand both the phenotypic spectrum and clinical severity associated with this gene. The presence of widespread PECR and adjacent bone alterations suggests that\n                    <jats:italic>FAM83H<\/jats:italic>\n                    dysfunction may affect not only enamel formation but also tooth eruption pathways and local tooth\u2013bone interactions. This study highlights the importance of early diagnosis, individualized radiographic follow-up, and genetic testing to guide counselling and clinical management of affected individuals.\n                  <\/jats:p>","DOI":"10.1007\/s00223-026-01540-8","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T11:43:45Z","timestamp":1777895025000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pre-eruptive Coronal Resorptions as a Clinical Feature of FAM83H-Related Amelogenesis Imperfecta: Insights from Two Brazilian Families"],"prefix":"10.1007","volume":"117","author":[{"given":"Kemelly Karolliny","family":"Resende","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luanna de Sousa","family":"Amorim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian Marly","family":"de Paula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 Ferreira","family":"Leite","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana Forte","family":"Mazzeu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Marcio","family":"Yamaguti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7110-7110","authenticated-orcid":false,"given":"Ana Carolina","family":"Acevedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,4]]},"reference":[{"issue":"9\u201310","key":"1540_CR1","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1111\/j.1600-0714.1988.tb01332.x","volume":"17","author":"CJ Witkop","year":"1988","unstructured":"Witkop CJ (1988) Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 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