{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T06:22:49Z","timestamp":1781677369659,"version":"3.54.5"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,10,19]],"date-time":"2011-10-19T00:00:00Z","timestamp":1318982400000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sotos syndrome is a well\u2010known overgrowth syndrome caused by haploinsufficiency of <jats:italic>NSD1<\/jats:italic> gene located at 5q35. There are two types of mutations that cause <jats:italic>NSD1<\/jats:italic> haploinsufficiency: mutations within the <jats:italic>NSD1<\/jats:italic> gene (mutation type) and a 5q35 submicroscopic deletion encompassing the entire <jats:italic>NSD1<\/jats:italic> gene (deletion type). We investigated detailed craniofacial, dental, and oral findings in five patients with deletion type, and three patients with mutation type Sotos syndrome. All eight patients had a high palate, excessive tooth wear, crowding, and all but one patient had hypodontia and deep bite. Hypodontia was exclusively observed in the second premolars, and there were no differences between the deletion and mutation types in the number of missing teeth. Another feature frequently seen in common with both types was maxillary recession. Findings seen more frequently and more pronounced in deletion\u2010type than in mutation\u2010type included mandibular recession, scissors or posterior cross bite, and small dental arch with labioclination of the maxillary central incisors. It is noteworthy that although either scissors bite or cross bite was present in all of the deletion\u2010type patients, neither of these was observed in mutation\u2010type patients. Other features seen in a few patients include enamel hypoplasia (two deletion patients), and ectopic tooth eruption (one deletion and one mutation patients). Our study suggests that Sotos syndrome patients should be observed closely for possible dental and oral complications especially for malocculusion in the deletion\u2010type patients. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33969","type":"journal-article","created":{"date-parts":[[2011,10,19]],"date-time":"2011-10-19T15:29:18Z","timestamp":1319038158000},"page":"2933-2939","source":"Crossref","is-referenced-by-count":16,"title":["Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of <i>NSD1<\/i> gene"],"prefix":"10.1002","volume":"155","author":[{"given":"Norimitsu","family":"Hirai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kensuke","family":"Matsune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2006.00684.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.20"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1754-4505.2006.tb01664.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00056-007-0717-y"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00056-007-1606-0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.5466\/ijoms.9.101"},{"key":"e_1_2_6_8_1","first-page":"4","article-title":"Normal standards for various cephalometric analysis in Japanese adults","volume":"16","author":"Iizuka T","year":"1957","journal-title":"Nippon Kyosei Shika Gakkai Zasshi"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.25.4.n52851t26173843u"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33062"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng863"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.285"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0917-2394(08)70138-1"},{"key":"e_1_2_6_14_1","first-page":"36","article-title":"A study on the tooth material in Japanese adults of normal occlusion, its relationship to coronal and basal arches","volume":"16","author":"Otsubo J","year":"1957","journal-title":"Nippon Kyosei Shika Gakkai Zasshi"},{"key":"e_1_2_6_15_1","first-page":"182","article-title":"A longitudinal study of dental development between 6\u201313 years of age: Growth changes of dentition","volume":"23","author":"Otsubo J","year":"1964","journal-title":"Nippon Kyosei Shika Gakkai Zasshi"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710301"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00056-007-2606-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.2209\/tdcpublication.48.73"},{"key":"e_1_2_6_19_1","first-page":"41","article-title":"Cerebral gigantism (Sotos syndrome) two case reports","volume":"4","author":"Welbury RR","year":"1988","journal-title":"J Paediatr Dent"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.5466\/ijoms.9.108"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33969","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33969","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:12:44Z","timestamp":1697638364000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33969"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,19]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1002\/ajmg.a.33969"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33969","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,19]]}}}