{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T20:26:02Z","timestamp":1779222362402,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,6,10]],"date-time":"2013-06-10T00:00:00Z","timestamp":1370822400000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract\u2003<\/jats:title><jats:p>Costello syndrome is a rare multiple congenital anomaly syndrome caused by heterozygous germline <jats:italic><jats:styled-content style=\"fixed-case\">HRAS<\/jats:styled-content><\/jats:italic> mutations, which is characterized by intellectual disability, growth retardation, distinctive facies, loose skin, cardiomyopathy and a preposition to malignancies. Although teeth abnormalities have been encountered in nearly two\u2010thirds of the patients in literature, the evaluation tended to be limited to the extent which can be obtained from physical examination. We investigated detailed craniofacial, oral and dental findings in four patients with <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>ostello syndrome. In this study, images reconstructed by multi\u2010detector row computed tomography (MDCT) were used as substitutes for dental cast study and panoramic and lateral cephalometric radiograph studies to evaluate dental arches, tooth size, relationships between craniofacial and dental structures, and hypodontia. All four patients showed true\/relative macrocephaly with facial bone hypoplasia and gingival hypertrophy. Occlusal attrition, malocclusion, small dental arches, microdontia, and convex face were noted in three patients. In addition, one patient showed dental caries, conic tooth and gingivitis, and another patient showed hypodontia. Our study suggests that craniofacial and dental abnormalities are common in <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>ostello syndrome patients and comprehensive dental care should be provided from early infancy. To our knowledge, this is the first study of thorough craniofacial and dental evaluation by using MDCT in Costello syndrome. MDCT is a useful tool for precise evaluation of craniofacial and oral manifestations in patients with congenital anomaly\/intellectual disability syndromes.<\/jats:p>","DOI":"10.1111\/cga.12004","type":"journal-article","created":{"date-parts":[[2012,11,12]],"date-time":"2012-11-12T17:19:46Z","timestamp":1352740786000},"page":"67-72","source":"Crossref","is-referenced-by-count":10,"title":["Craniofacial and dental malformations in <scp>C<\/scp>ostello syndrome: A detailed evaluation using multi\u2010detector row computed tomography"],"prefix":"10.1111","volume":"53","author":[{"given":"Masashi","family":"Takahashi","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry Nihon University Graduate School of Dentistry at Matsudo  Matsudo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Saitama Children's Medical Center  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,6,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35292"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/121.1.149"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20330"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410118"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470737"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<187::AID-AJMG17>3.0.CO;2-2"},{"key":"e_1_2_6_9_1","first-page":"21","article-title":"Orthodontic consideration of quadruplets, compared to themselves and their parent at dento\u2010maxilla\u2010faical form","volume":"19","author":"Fukawa A","year":"2008","journal-title":"J Jpn Assoc Orthod"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12005"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10019"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.5466\/ijoms.9.101"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33969"},{"key":"e_1_2_6_14_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_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70284-7"},{"key":"e_1_2_6_16_1","first-page":"991","article-title":"[Studies on growth and development of dentition in Japanese children \u2013 examination of the longitudinal casts from deciduous dentition of 3\u2010year\u2010old to permanent dentition (author's transl)]","volume":"79","author":"Kato K","year":"1979","journal-title":"Shika Gakuho"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10236"},{"key":"e_1_2_6_18_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_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33183"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470204"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.5466\/ijoms.9.108"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470210"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12004","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T20:52:07Z","timestamp":1696366327000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1111\/cga.12004"],"URL":"https:\/\/doi.org\/10.1111\/cga.12004","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6]]}}}