{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:30:14Z","timestamp":1760956214720},"reference-count":5,"publisher":"Akademiai Kiado Zrt.","issue":"46","license":[{"start":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T00:00:00Z","timestamp":1700352000000},"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":[[2023,11,19]]},"abstract":"<jats:p>Az ectrodactylia (ujjak hi\u00e1nya)\u2013ectodermalis dysplasia\u2013ajak- \u00e9s sz\u00e1jpadhasad\u00e9k\n                    (ectrodactyly\u2013ectodermal dysplasia\u2013cleft lip\/palate \u2013 EEC-) szindr\u00f3ma rendk\u00edv\u00fcl\n                    ritka genetikai rendelleness\u00e9g, amely autoszom\u00e1lis domin\u00e1ns \u00f6r\u00f6kl\u0151d\u00e9st mutat, de\n                    sz\u00f3rv\u00e1nyosan is el\u0151fordulhat. A szindr\u00f3ma nev\u00e9ben jelzett tri\u00e1sz mellett m\u00e1s\n                    szervi elv\u00e1ltoz\u00e1s is jelentkezhet. Mind az ectodermalis, mind a mesodermalis\n                    sz\u00f6vetek \u00e9rintettek lehetnek, \u00e9s a szindr\u00f3ma klinikai megjelen\u00e9se nagyon\n                    v\u00e1ltoz\u00f3. A korai diagn\u00f3zis \u00e9s kezel\u00e9s egyed\u00fcl\u00e1ll\u00f3 kih\u00edv\u00e1st jelent a\n                    diagnosztik\u00e1ban \u00e9s a gy\u00f3gy\u00edt\u00e1sban r\u00e9szt vev\u0151k sz\u00e1m\u00e1ra, de fontos szerepe van a\n                    sz\u00fcl\u0151k felk\u00e9sz\u00edt\u00e9s\u00e9ben is. K\u00f6zlem\u00e9ny\u00fcnkben egy sporadikus EEC-szindr\u00f3m\u00e1s\n                    beteg\u00fcnk eset\u00e9t ismertetj\u00fck. A komplex fenot\u00edpus bemutat\u00e1sa \u00e9s a rendk\u00edv\u00fcl\n                    \u00f6sszetett orvosi beavatkoz\u00e1sok ismertet\u00e9se kapcs\u00e1n \u00f6sszefoglaljuk a k\u00f3rk\u00e9p\n                    legfontosabb ism\u00e9rveit, diagnosztikai \u00e9s ter\u00e1pi\u00e1s lehet\u0151s\u00e9geit, valamint a\n                    pontos genetikai verifik\u00e1ci\u00f3 klinikai jelent\u0151s\u00e9g\u00e9t. A 3q28-as kromosz\u00f3mar\u00e9gi\u00f3ban\n                    tal\u00e1lhat\u00f3, EEC3-fenot\u00edpushoz k\u00f6thet\u0151 <jats:italic>TP63<\/jats:italic>-g\u00e9n-mut\u00e1ci\u00f3t\n                    teljesexom-szekven\u00e1l\u00e1ssal azonos\u00edtottuk. A k\u00f3roki mut\u00e1ci\u00f3 ismerete \u2013 megfelel\u0151\n                    genetikai tan\u00e1csad\u00e1s \u00e9s modern fertiliz\u00e1ci\u00f3s m\u00f3dszerek \u00e1ltal \u2013 lehet\u0151v\u00e9 teszi,\n                    hogy a szindr\u00f3ma \u00f6r\u00f6kl\u0151d\u00e9s\u00e9nek lehet\u0151s\u00e9g\u00e9t minimaliz\u00e1ljuk a beteg ut\u00f3dain\u00e1l.\n                    Eset\u00fcnk bemutat\u00e1s\u00e1val c\u00e9lunk felh\u00edvni a figyelmet egy ritka \u00e9s s\u00falyos szervi\n                    \u00e9rintetts\u00e9ggel j\u00e1r\u00f3 k\u00f3rk\u00e9pre, melynek gy\u00f3gy\u00edt\u00e1s\u00e1ban megfelel\u0151 \u00e9letmin\u0151s\u00e9get ad\u00f3\n                    eredm\u00e9nyt csak multidiszciplin\u00e1ris \u00f6sszefog\u00e1ssal lehetett el\u00e9rni. Orv Hetil.\n                    2023; 164(46): 1831\u20131837.<\/jats:p>","DOI":"10.1556\/650.2023.32913","type":"journal-article","created":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T07:25:41Z","timestamp":1700378741000},"page":"1831-1837","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":3,"title":["Ectrodactylia, ectodermalis dysplasia, ajak- \u00e9s sz\u00e1jpadhasad\u00e9k szindr\u00f3ma"],"prefix":"10.1556","volume":"164","author":[{"given":"Krisztina","family":"Bartalis","sequence":"first","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, F\u00fcl-Orr-G\u00e9g\u00e9szeti \u00e9s Fej-Nyakseb\u00e9szeti Oszt\u00e1ly Szombathely, Markusovszky u. 5., 9700 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernadette","family":"K\u00e1lm\u00e1n","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Molekul\u00e1ris Orvosl\u00e1s Szombathely Magyarorsz\u00e1g"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szent\u00e1gothai Kutat\u00f3k\u00f6zpont, Laborat\u00f3riumi Medicina Int\u00e9zet P\u00e9cs Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mih\u00e1ly","family":"Kisely","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, F\u00fcl-Orr-G\u00e9g\u00e9szeti \u00e9s Fej-Nyakseb\u00e9szeti Oszt\u00e1ly Szombathely, Markusovszky u. 5., 9700 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"1. 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