{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T02:26:01Z","timestamp":1793672761399,"version":"4.5.1"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T00:00:00Z","timestamp":1671408000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2020-0009_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones. In most cases, TCS is the result of a mutation in the\n                      <jats:italic>TCOF1<\/jats:italic>\n                      gene. The incidence is estimated to be between 1\/10,000 and 1\/50,000 live births. Our purpose was to describe a case report of patient with TCS born in the Department of Neonatology at the Pomeranian Medical University in Szczecin (Poland) and his family with short review of literature.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2020-0009_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>Clinical abnormalities which were found after birth mainly affect the head\u00a0\u2013 hypoplasia of the cheek bones and the zygomatic bones, micrognation, deformed auricles with undeveloped external auditory canals, retrognathia of the mandible, cleft hard and soft palate and narrow palpebral fissure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2020-0009_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The treatment of children with TCS is long-term. Patients require a series of reconstructive and plastic surgical procedures. Our patient presented the complete form of TCS. There are multiple surgeries awaiting him, which, eventually, will improve his quality of life.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2020-0009","type":"journal-article","created":{"date-parts":[[2022,9,19]],"date-time":"2022-09-19T23:05:23Z","timestamp":1663628723000},"source":"Crossref","is-referenced-by-count":1,"title":["Treacher Collins syndrome\u00a0\u2013 a case report"],"prefix":"10.1515","volume":"12","author":[{"given":"Magda","family":"Fraszczyk-Tousty","sequence":"first","affiliation":[{"name":"Department of Neonatal Diseases, Pomeranian Medical University , Szczecin , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6816-6590","authenticated-orcid":false,"given":"Agata","family":"Jankowska","sequence":"additional","affiliation":[{"name":"Department of Neonatal Diseases, Pomeranian Medical University , Szczecin , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Tousty","sequence":"additional","affiliation":[{"name":"Department of Neonatal Diseases, Pomeranian Medical University , Szczecin , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Tousty","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics , Pomeranian Medical University , Szczecin , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"\u0141oniewska","sequence":"additional","affiliation":[{"name":"Department of Neonatal Diseases, Pomeranian Medical University , Szczecin , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,12,19]]},"reference":[{"key":"2025120519042006499_j_crpm-2020-0009_ref_001","unstructured":"M\u0105czka, G. Janina szel\u0105g zesp\u00f3\u0142 treachera collinsa\u00a0\u2013 przegl\u0105d pi\u015bmiennictwa. Dent Med Probl 2009;46:337\u201341."},{"key":"2025120519042006499_j_crpm-2020-0009_ref_002","doi-asserted-by":"crossref","unstructured":"Sharma, R, Sharma, B, Babber, M, Singh, S, Jain, G. Treacher Collins\u00a0syndrome: a case report and review of ophthalmic features. Taiwan J Ophthalmol 2016;6:206\u20139. https:\/\/doi.org\/10.1016\/j.tjo.2016.07.002.","DOI":"10.1016\/j.tjo.2016.07.002"},{"key":"2025120519042006499_j_crpm-2020-0009_ref_003","unstructured":"Katsanis, SH, Jabs, EW. Treacher Collins syndrome. GeneReviews\u00ae; 2020. Available from: http:\/\/europepmc.org\/books\/NBK1532."},{"key":"2025120519042006499_j_crpm-2020-0009_ref_004","doi-asserted-by":"crossref","unstructured":"Shetty, SB, Thomas, A, Pidamale, R. Treacher Collins syndrome: a case report and a brief review on diagnostic aids. Int J Clin Pediatr Dent 2011;4:235. https:\/\/doi.org\/10.5005\/jp-journals-10005-1116.","DOI":"10.5005\/jp-journals-10005-1116"},{"key":"2025120519042006499_j_crpm-2020-0009_ref_005","unstructured":"Treacher Collins syndrome \u2013 NORD (national organization for rare disorders) 2019. Available from: https:\/\/rarediseases.org\/rare-diseases\/treacher-collins-syndrome\/."},{"key":"2025120519042006499_j_crpm-2020-0009_ref_006","doi-asserted-by":"crossref","unstructured":"Dixon, MJ. Treacher Collins syndrome. Hum Mol Genet 1996;5:1391\u20133. https:\/\/doi.org\/10.1093\/hmg\/5.supplement_1.1391.","DOI":"10.1093\/hmg\/5.Supplement_1.1391"},{"key":"2025120519042006499_j_crpm-2020-0009_ref_007","doi-asserted-by":"crossref","unstructured":"Chung, JY, Cangialosi, TJ, Eisig, SB. Treacher Collins syndrome: a case study. Am J Orthod Dentofacial Orthop 2014;146:665\u201372. https:\/\/doi.org\/10.1016\/j.ajodo.2014.06.019.","DOI":"10.1016\/j.ajodo.2014.06.019"},{"key":"2025120519042006499_j_crpm-2020-0009_ref_008","doi-asserted-by":"crossref","unstructured":"Mohan, RPS, Verma, S, Agarwal, N, Singh, U. Treacher Collins syndrome: a case report. Case Reports 2013;2013. bcr2013009341. https:\/\/doi.org\/10.1136\/bcr-2013-009341.","DOI":"10.1136\/bcr-2013-009341"},{"key":"2025120519042006499_j_crpm-2020-0009_ref_010","unstructured":"Kot, M, Lewandowska, M, Kruk-Jeromin, J. Rodzinne wyst\u0119powanie zespo\u0142u Treachera Collinsa\u00a0\u2013 opis 6 rodzin. Pediatr i Med Rodz 2009;5:60\u20135."},{"key":"2025120519042006499_j_crpm-2020-0009_ref_009","doi-asserted-by":"crossref","unstructured":"Kumar, T, Arora, N, Kataria, AS, Sharma, D. Treacher Collins syndrome: a case report and review of literature. SRM J Res Dent Sci 2016;7:128. https:\/\/doi.org\/10.4103\/0976-433x.182659. 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