{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T15:16:43Z","timestamp":1761664603951,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T00:00:00Z","timestamp":1685664000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Individuals with amelogenesis imperfecta (AI) often present with malocclusions, especially a dental or skeletal anterior open bite (AOB). Objectives: To evaluate the craniofacial characteristics in individuals with AI. Material and methods: A systematic literature search was conducted with the PubMed, Web of Science, Embase and Google Scholar databases to identify studies relating to the cephalometric characteristics of individuals with AI, without any language or publication date restrictions. The grey literature was searched using Google Scholar, Opengrey and Worldcat. Only studies with a suitable control group for comparison were included. Data extraction and a risk of bias assessment were carried out. A meta-analysis was performed using the random effects model for cephalometric variables that were evaluated in at least three studies. Results: The initial literature search yielded 1857 articles. Following the removal of duplicates and a screening of the records, seven articles were included in the qualitative synthesis, representing a total of 242 individuals with AI. Four studies were included in the quantitative synthesis. The meta-analysis results showed that individuals with AI present a smaller SNB angle and larger ANB angle than those of control groups in the sagittal plane. In the vertical plane, those with AI present a smaller overbite and larger intermaxillary angle than those without AI. No statistically significant differences were found for the SNA angle when comparing the two groups. Conclusions: Individuals with AI seem to present with more vertical craniofacial growth, leading to an increased intermaxillary angle and decreased overbite. This possibly leads to a more retrognathic mandible with a larger ANB angle due to an anticipated posterior mandibular rotation.<\/jats:p>","DOI":"10.3390\/jcm12113826","type":"journal-article","created":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T08:50:31Z","timestamp":1685695831000},"page":"3826","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Craniofacial Cephalometric Characteristics and Open Bite Deformity in Individuals with Amelogenesis Imperfecta\u2014A Systematic Review and Meta-Analysis"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2947-0044","authenticated-orcid":false,"given":"Yassine","family":"Messaoudi","sequence":"first","affiliation":[{"name":"Division of Orthodontics, University Clinics of Dental Medicine, Faculty of Medicine, University of Geneva, 1 rue Michel-Servet, 1205 Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stavros","family":"Kiliaridis","sequence":"additional","affiliation":[{"name":"Division of Orthodontics, University Clinics of Dental Medicine, Faculty of Medicine, University of Geneva, 1 rue Michel-Servet, 1205 Geneva, Switzerland"},{"name":"Department of Orthodontics and Dentofacial Orthopedics, University of Bern, 3010 Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6741-6922","authenticated-orcid":false,"given":"Gregory S.","family":"Antonarakis","sequence":"additional","affiliation":[{"name":"Division of Orthodontics, University Clinics of Dental Medicine, Faculty of Medicine, University of Geneva, 1 rue Michel-Servet, 1205 Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,2]]},"reference":[{"key":"ref_1","first-page":"101","article-title":"Amelogenesis imperfecta--multidisciplinary management from eruption to adulthood. Review and case report","volume":"100","author":"Ayers","year":"2004","journal-title":"N. Z. Dent. J."},{"key":"ref_2","first-page":"153","article-title":"Inherited defects in tooth structure","volume":"7","author":"Rao","year":"1971","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1708-8240.2010.00354.x","article-title":"A multidisciplinary approach to the functional and esthetic rehabilitation of amelogenesis imperfecta and open bite deformity: A case report","volume":"22","author":"Gisler","year":"2010","journal-title":"J. Esthet. Restor. Dent."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/j.1600-0714.1988.tb01332.x","article-title":"Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification","volume":"17","author":"Witkop","year":"1988","journal-title":"J. Oral. Pathol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1016\/0030-4220(81)90159-6","article-title":"Amelogenesis imperfecta and multiple impactions","volume":"51","author":"Fritz","year":"1981","journal-title":"Oral. Surg. Oral. Med. Oral. Pathol."},{"key":"ref_6","first-page":"384","article-title":"Clinical diagnosis and management strategies of amelogenesis imperfectavariants","volume":"15","author":"Seow","year":"1993","journal-title":"Pediatr. Dent."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"397","DOI":"10.14219\/jada.archive.1945.0063","article-title":"Hereditary Disturbances of Enamel Formation and Calcification","volume":"32","author":"Weinmann","year":"1945","journal-title":"J. Am. Dent. Assoc."},{"key":"ref_8","first-page":"1","article-title":"Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population","volume":"31","author":"Sundell","year":"1986","journal-title":"Swed. Dent. J. Suppl."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"79","DOI":"10.3109\/00016359309041152","article-title":"The absence of correlations between a clinical classification and ultrastructural findings in amelogenesis imperfecta","volume":"51","author":"Backman","year":"1993","journal-title":"Acta Odontol. Scand."},{"key":"ref_10","first-page":"15","article-title":"The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta","volume":"12","author":"Gibbard","year":"1974","journal-title":"Int. J. Orthod."},{"key":"ref_11","first-page":"33","article-title":"The clinical picture of amelogenesis imperfecta hereditaria","volume":"28","author":"Beetke","year":"1978","journal-title":"Stomatol. DDR"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3109\/00016358209012722","article-title":"Facial morphology and open bite deformity in amelogenesis imperfecta. A roentgenocephalometric study","volume":"40","author":"Persson","year":"1982","journal-title":"Acta Odontol. Scand."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S0889-5406(94)70142-3","article-title":"Craniofacial structure related to inheritance pattern in amelogenesis imperfecta","volume":"105","author":"Backman","year":"1994","journal-title":"Am. J. Orthod. Dentofac. Orthop."},{"key":"ref_14","first-page":"293","article-title":"Improving quality of life with a team approach: A case report","volume":"16","author":"Keles","year":"2001","journal-title":"Int. J. Adult Orthod. Orthognath. Surg."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.archoralbio.2004.12.003","article-title":"Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta","volume":"50","author":"Ravassipour","year":"2005","journal-title":"Arch. Oral. Biol."},{"key":"ref_16","unstructured":"Stewart, R.E., and Prescott, G.H. (1976). Oral Facial Genetics, Mosby."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0002-9416(82)90055-0","article-title":"An investigation of the association between anterior open-bite and amelogenesis imperfecta","volume":"81","author":"Rowley","year":"1982","journal-title":"Am. J. Orthod."},{"key":"ref_18","first-page":"405","article-title":"Dental enamel hypoplasia and open bite as autosomal dominant genetic symptoms","volume":"23","author":"Erpenstein","year":"1968","journal-title":"Dtsch. Zahnarztl. Z."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/0002-9416(72)90153-4","article-title":"Varieties of anterior open-bite","volume":"61","author":"Nahoum","year":"1972","journal-title":"Am. J. Orthod."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Moher, D., Liberati, A., Tetzlaff, J., Altman, D.G., and Group, P. (2009). Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement. PLoS Med., 6.","DOI":"10.1371\/journal.pmed.1000097"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"269","DOI":"10.14219\/jada.archive.2013.0113","article-title":"Craniofacial morphological characteristics in children with obstructive sleep apnea syndrome: A systematic review and meta-analysis","volume":"144","author":"Korayem","year":"2013","journal-title":"J. Am. Dent. Assoc."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/S1010-5182(98)80023-1","article-title":"Open bite deformity in amelogenesis imperfecta. Part 1: An analysis of contributory factors and implications for treatment","volume":"26","author":"Hoppenreijs","year":"1998","journal-title":"J. Cranio-Maxillofac. Surg."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s11282-010-0046-5","article-title":"Radiographic evaluation of craniofacial structures associated with amelogenesis imperfecta in a Turkish population: A controlled trial study","volume":"26","author":"Oz","year":"2010","journal-title":"Oral. Radiol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1093\/ejo\/cjq089","article-title":"Craniofacial characteristics and genotypes of amelogenesis imperfecta patients","volume":"33","author":"Pavlic","year":"2011","journal-title":"Eur. J. Orthod."},{"key":"ref_25","first-page":"452","article-title":"An assessment of class 3 malocclusion","volume":"16","author":"Mills","year":"1966","journal-title":"Dent. Pract. Dent. Rec."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/0002-9416(64)90175-7","article-title":"Open-Bite\u2014Diagnosis + Treatment","volume":"50","author":"Subtelny","year":"1964","journal-title":"Am. J. Orthod. Dentofac. Orthop."},{"key":"ref_27","first-page":"543","article-title":"Diagnosis and clinical management of patients with skeletal Class III dysplasia","volume":"55","author":"Noble","year":"2007","journal-title":"Gen. Dent."},{"key":"ref_28","first-page":"148","article-title":"Craniofacial features associated with amelogenesis imperfecta","volume":"19","author":"Cartwright","year":"1999","journal-title":"J. Craniofac. Genet. Dev. Biol."},{"key":"ref_29","first-page":"558","article-title":"Severe anterior open-bite case treated using titanium screw anchorage","volume":"74","author":"Kuroda","year":"2004","journal-title":"Angle Orthod."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"137","DOI":"10.2319\/032221-228.1","article-title":"Multiloop edgewise archwire treatment for a patient with a severe anterior open bite and amelogenesis imperfecta","volume":"92","author":"Masoud","year":"2022","journal-title":"Angle Orthod."},{"key":"ref_31","first-page":"170","article-title":"Restoring function and aesthetics in a patient previously treated for amelogenesis imperfecta","volume":"17","author":"Dooley","year":"2009","journal-title":"Eur. J. Prosthodont. Restor. Dent."},{"key":"ref_32","first-page":"421","article-title":"Amelogenesis imperfecta and anterior open bite: How to optimize patient management? A review of the literature","volume":"92","author":"Trentesaux","year":"2021","journal-title":"L\u2019Orthod. Fr."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/11\/3826\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:47:50Z","timestamp":1760125670000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/11\/3826"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,2]]},"references-count":32,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2023,6]]}},"alternative-id":["jcm12113826"],"URL":"https:\/\/doi.org\/10.3390\/jcm12113826","relation":{},"ISSN":["2077-0383"],"issn-type":[{"type":"electronic","value":"2077-0383"}],"subject":[],"published":{"date-parts":[[2023,6,2]]}}}