{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T01:14:47Z","timestamp":1780103687916,"version":"3.54.0"},"reference-count":17,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuroradiol J"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>Treacher-Collins syndrome or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development. In this familial syndrome there is an arrest in the development of the facial bones, manifested by a depression of the malar bones, an antimonogoloid slant of the palpebral fissures, mandibular hypoplasia with retrognathia, coloboma of the lower eyelids and deformities of the ear structures derived from the branchial arches. Frequently, there is external auditory canal atresia and deformity of the pinnae. Other uncommon anomalies include congenital heart defects and cryptorchidism. This study describes a rare case of Treacher-Collins syndrome associated with congenital cardiopathy and megacolon, with a review of the literature.<\/jats:p>","DOI":"10.1177\/197140090702000321","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T17:39:43Z","timestamp":1429724383000},"page":"365-372","source":"Crossref","is-referenced-by-count":4,"title":["Treacher-Collins Syndrome and Associated Abnormalities"],"prefix":"10.1177","volume":"20","author":[{"given":"I.","family":"Tsitouridis","sequence":"first","affiliation":[{"name":"Diagnostic and Interventional Radiology, Papageorgiou General Hospital; Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bintoudi","sequence":"additional","affiliation":[{"name":"Diagnostic and Interventional Radiology, Papageorgiou General Hospital; Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Diamantopoulou","sequence":"additional","affiliation":[{"name":"Diagnostic and Interventional Radiology, Papageorgiou General Hospital; Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Michaelides","sequence":"additional","affiliation":[{"name":"Diagnostic and Interventional Radiology, Papageorgiou General Hospital; Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2007,6,1]]},"reference":[{"key":"bibr1-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2000)037<0434:TCSCET>2.0.CO;2"},{"key":"bibr2-197140090702000321","first-page":"1","volume":"4","author":"Walker CR","year":"2005","journal-title":"TM Journal"},{"key":"bibr3-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1590\/S0034-72992005000100021"},{"key":"bibr4-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200211000-00034"},{"key":"bibr5-197140090702000321","unstructured":"Tewfik LT, Alnoury KI: Manifestations of craniofacial syndromes. http:\/\/www.emedicine.com\/ent\/topic319.htm, Last Updated August 7, 2006."},{"key":"bibr6-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31802cf3ff"},{"key":"bibr7-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20312"},{"key":"bibr8-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20488"},{"key":"bibr9-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.10.806"},{"key":"bibr10-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1038\/368703a0"},{"key":"bibr11-197140090702000321","first-page":"223","volume":"43","author":"Marszalek B","year":"2002","journal-title":"J Appl Genet"},{"key":"bibr12-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2006.00296.x"},{"key":"bibr13-197140090702000321","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1093\/oso\/9780195118612.003.0019","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001","edition":"4"},{"key":"bibr14-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198610000-00003"},{"key":"bibr15-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2273.1981.tb01782.x"},{"key":"bibr16-197140090702000321","doi-asserted-by":"publisher","DOI":"10.1016\/0720-048X(95)00663-B"},{"key":"bibr17-197140090702000321","first-page":"519","volume-title":"Textbook of dermatology","author":"Atherton DJ","year":"1998","edition":"6"}],"container-title":["The Neuroradiology Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/197140090702000321","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/197140090702000321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:25:18Z","timestamp":1777587918000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/197140090702000321"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["10.1177\/197140090702000321"],"URL":"https:\/\/doi.org\/10.1177\/197140090702000321","relation":{},"ISSN":["1971-4009","2385-1996"],"issn-type":[{"value":"1971-4009","type":"print"},{"value":"2385-1996","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6]]}}}