{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T16:43:11Z","timestamp":1758127391122},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"52","license":[{"start":{"date-parts":[[2020,12,27]],"date-time":"2020-12-27T00:00:00Z","timestamp":1609027200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2020,12,27]]},"abstract":"\u00d6sszefoglal\u00f3.<\/jats:bold> A Treacher Collins-szindr\u00f3ma a mandibulofacialis\n dysostosisok csoportj\u00e1ba tartoz\u00f3 k\u00f3rk\u00e9p. F\u0151bb jellegzetess\u00e9gei a maxillaris \u00e9s\n mandibularis dysostosis, az antimongoloid szemr\u00e9sek, az als\u00f3 szemh\u00e9j colobom\u00e1ja,\n illetve a vezet\u00e9ses hall\u00e1scs\u00f6kken\u00e9s. A szindr\u00f3m\u00e1val j\u00e1r\u00f3 t\u00fcnetek egy\u00e9nenk\u00e9nt \u00e9s\n csal\u00e1don bel\u00fcl is nagyon elt\u00e9r\u0151ek lehetnek; legenyh\u00e9bb form\u00e1i csaknem\n \u00e9szrevehetetlenek, m\u00edg a s\u00falyosabb esetekben az \u00e9letet vesz\u00e9lyeztet\u0151 l\u00e9g\u00fati\n sz\u00f6v\u0151dm\u00e9nyek l\u00e9phetnek fel. H\u00e1tter\u00e9ben az esetek d\u00f6nt\u0151 t\u00f6bbs\u00e9g\u00e9ben a\n TCOF1<\/jats:italic>-g\u00e9n elt\u00e9r\u00e9sei j\u00e1tszanak szerepet, mely elt\u00e9r\u00e9sek\n autoszom\u00e1lis domin\u00e1ns m\u00f3don \u00f6r\u00f6kl\u0151dnek. Esetbemutat\u00e1sunk c\u00e9lja, hogy felh\u00edvjuk a\n figyelmet a genetikai vizsg\u00e1lat elv\u00e9gz\u00e9s\u00e9nek fontoss\u00e1g\u00e1ra olyan, klinikailag j\u00f3l\n felismerhet\u0151 t\u00fcnetegy\u00fcttes, mint a Treacher Collins-szindr\u00f3ma eset\u00e9n. B\u00e1r a\n betegs\u00e9g a klinikai k\u00e9p alapj\u00e1n diagnosztiz\u00e1lhat\u00f3, az ism\u00e9tl\u0151d\u00e9s kock\u00e1zat\u00e1t csak\n \u00fagy tudjuk pontosan meghat\u00e1rozni, ha ismerj\u00fck a csal\u00e1dtagok genot\u00edpus\u00e1t. A\n bemutatott csal\u00e1d t\u00f6bb tagj\u00e1n\u00e1l kimutathat\u00f3 volt a TCOF1<\/jats:italic>-g\u00e9n\n mut\u00e1ci\u00f3ja, annak ellen\u00e9re, hogy klinikai t\u00fcnet\u00fck nem volt. A jelens\u00e9g\n magyar\u00e1zata az inkomplett penetrancia, azaz a hib\u00e1s g\u00e9n fenot\u00edpusosan nem ker\u00fcl\n kifejez\u0151d\u00e9sre. Orv Hetil. 2020; 161(52): 2201\u20132205.<\/jats:p>\n Summary.<\/jats:bold> Treacher Collins syndrome belongs to the group of\n mandibulofacial dysostoses. Its main features are maxillary and mandibular\n dysostosis, downward-slanting palpebral fissures, coloboma of the lower eyelid\n and conductive hearing loss. The symptoms associated with the syndrome can vary\n greatly from individual to individual and within the family. In its mildest\n form, the syndrome is almost imperceptible, and when severe, life-threatening\n respiratory complication can occur. TCOF1<\/jats:italic> is the major gene\n involved with an autosomal dominant mode of inheritance. The purpose of our case\n study is to draw attention to the importance of performing genetic testing in a\n clinically recognizable disorder such as Treacher Collins syndrome. Although the\n disease can be diagnosed based on the clinical symptoms, the risk of recurrence\n can only be accurately determined if the genotype of the family members is\n known. Several members of the presented family had a mutation in the\n TCOF1<\/jats:italic> gene despite having no clinical symptoms. The\n explanation for this phenomenon is incomplete penetrance, i.e.,<\/jats:italic>\n the defective gene is not expressed in the phenotype. Orv Hetil. 2020; 161(52):\n 2201\u20132205.<\/jats:p>","DOI":"10.1556\/650.2020.31945","type":"journal-article","created":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T01:02:59Z","timestamp":1609290179000},"page":"2201-2205","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":3,"title":["G\u00e9nvizsg\u00e1lat Treacher Collins-szindr\u00f3m\u00e1ban"],"prefix":"10.1556","volume":"161","author":[{"given":"Anna","family":"Zsigmond","sequence":"first","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet, P\u00e9cs, J\u00f3zsef A. u. 7., 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"Till","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet, P\u00e9cs, J\u00f3zsef A. u. 7., 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrienn Lilla","family":"Pint\u00e9r","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet, P\u00e9cs, J\u00f3zsef A. u. 7., 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Ma\u00e1sz","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet, P\u00e9cs, J\u00f3zsef A. u. 7., 7623"},{"name":"2 P\u00e9csi Tudom\u00e1nyegyetem, Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont, P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e1s","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet, P\u00e9cs, J\u00f3zsef A. u. 7., 7623"},{"name":"2 P\u00e9csi Tudom\u00e1nyegyetem, Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont, P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet, P\u00e9cs, J\u00f3zsef A. u. 7., 7623"},{"name":"2 P\u00e9csi Tudom\u00e1nyegyetem, Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont, P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"link":[{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/161\/52\/article-p2201.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/akjournals.com\/downloadpdf\/journals\/650\/161\/52\/article-p2201.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T01:13:45Z","timestamp":1633914825000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/161\/52\/article-p2201.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,27]]},"references-count":0,"journal-issue":{"issue":"52"},"URL":"https:\/\/doi.org\/10.1556\/650.2020.31945","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,27]]}}}