{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T23:56:26Z","timestamp":1766102186613},"reference-count":31,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,28]],"date-time":"2009-10-28T00:00:00Z","timestamp":1256688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the <jats:italic>NSD1<\/jats:italic> gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the <jats:italic>NSD1<\/jats:italic> gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the <jats:italic>NSD1<\/jats:italic>. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33062","type":"journal-article","created":{"date-parts":[[2009,10,29]],"date-time":"2009-10-29T20:47:49Z","timestamp":1256849269000},"page":"2409-2414","source":"Crossref","is-referenced-by-count":12,"title":["Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the <i>NSD1<\/i> gene"],"prefix":"10.1002","volume":"149A","author":[{"given":"Johanna","family":"Kotilainen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Pohjola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinikka","family":"Pirinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirpa","family":"Arte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pekka","family":"Nieminen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.4.339"},{"key":"e_1_2_6_3_1","unstructured":"ArteS.2001.Phenotypic and genotypic features of familial hypodontia. 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