{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:56:38Z","timestamp":1740164198048,"version":"3.37.3"},"reference-count":25,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Dentistry"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region.<jats:italic>Case Presentation<\/jats:italic>. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms of skeletal dysplasia, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies.<jats:italic>Conclusion<\/jats:italic>. Knowledge of this rare syndrome on the part of dentists is important due to the fact that this condition involves severe abnormalities of the stomatognathic system that cause an impact on the development of the entire face as well as functional and esthetic impairments.<\/jats:p>","DOI":"10.1155\/2016\/9685429","type":"journal-article","created":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T17:27:40Z","timestamp":1468344460000},"page":"1-7","source":"Crossref","is-referenced-by-count":0,"title":["Maxillofacial Changes in Melnick-Needles Syndrome"],"prefix":"10.1155","volume":"2016","author":[{"given":"Leilane Larissa","family":"Albuquerque do Nascimento","sequence":"first","affiliation":[{"name":"Brazilian Association of Dentistry, 57037-240 Macei\u00f3, AL, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica da Consola\u00e7\u00e3o Canuto","family":"Salgueiro","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Biophotonics Applied to Health Sciences, Nove de Julho University, 01504-001 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Quintela","sequence":"additional","affiliation":[{"name":"Brazilian Association of Dentistry, 57037-240 Macei\u00f3, AL, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2726-157X","authenticated-orcid":true,"given":"Victor Perez","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Nove de Julho University, 01504-001 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina Costa","family":"Mota","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Biophotonics Applied to Health Sciences, Nove de Julho University, 01504-001 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0035-8008","authenticated-orcid":true,"given":"Camila Haddad Leal de","family":"Godoy","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Rehabilitation Sciences, Nove de Julho University, 01504-001 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9853-1138","authenticated-orcid":true,"given":"Sandra Kalil","family":"Bussadori","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Biophotonics Applied to Health Sciences, Nove de Julho University, 01504-001 S\u00e3o Paulo, SP, Brazil"},{"name":"Postgraduate Program in Rehabilitation Sciences, Nove de Julho University, 01504-001 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.97.1.39"},{"issue":"5","key":"2","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D","volume":"90","year":"2000","journal-title":"American Journal of Medical Genetics"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1159\/000320184"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270117"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270116"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200707073"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33260"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201654"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.v1i5.248"},{"issue":"4","key":"11","first-page":"471","volume":"32","year":"1995","journal-title":"Indian Pediatrics"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1994.tb00158.x"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-64-765-852"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1097\/scs.0b013e3181577aab"},{"key":"15","first-page":"248","volume":"54","year":"2006","journal-title":"Journal of Association of Physicians of India"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1097\/scs.0b013e3181c50fd6"},{"issue":"2","key":"17","first-page":"69","volume":"54","year":"1999","journal-title":"Revista do Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo"},{"issue":"4","key":"18","first-page":"252","volume":"21","year":"2011","journal-title":"Journal of the College of Physicians and Surgeons Pakistan"},{"issue":"3","key":"19","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S","volume":"76","year":"1998","journal-title":"American Journal of Medical Genetics"},{"issue":"3","key":"20","first-page":"231","volume":"32","year":"2010","journal-title":"Pediatria"},{"issue":"1","key":"21","first-page":"116","volume":"12","year":"2008","journal-title":"Arquivos Internacionais de Otorrinolaringologia"},{"issue":"3","key":"22","first-page":"436","volume":"12","year":"2008","journal-title":"International Archives of Otorhinolaryngology"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinimag.2006.03.032"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.a0485"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290319"}],"container-title":["Case Reports in Dentistry"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2016\/9685429.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2016\/9685429.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2016\/9685429.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,24]],"date-time":"2017-06-24T14:17:49Z","timestamp":1498313869000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crid\/2016\/9685429\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":25,"alternative-id":["9685429","9685429"],"URL":"https:\/\/doi.org\/10.1155\/2016\/9685429","relation":{},"ISSN":["2090-6447","2090-6455"],"issn-type":[{"type":"print","value":"2090-6447"},{"type":"electronic","value":"2090-6455"}],"subject":[],"published":{"date-parts":[[2016]]}}}