{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,2]],"date-time":"2023-12-02T00:35:41Z","timestamp":1701477341301},"reference-count":24,"publisher":"Akademiai Kiado Zrt.","issue":"21","license":[{"start":{"date-parts":[[2022,5,22]],"date-time":"2022-05-22T00:00:00Z","timestamp":1653177600000},"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":[[2022,5,22]]},"abstract":"<jats:p><jats:italic>Bevezet\u00e9s:<\/jats:italic>Az ajak- \u00e9s\/vagy sz\u00e1jpadhasad\u00e9kok d\u00f6nt\u0151 t\u00f6bbs\u00e9gben izol\u00e1ltan el\u0151fordul\u00f3 fejl\u0151d\u00e9si rendelleness\u00e9gek. Kis h\u00e1nyadukban ugyanakkor genetikai szindr\u00f3m\u00e1k r\u00e9szei is lehetnek.<jats:italic>C\u00e9lkit\u0171z\u00e9s:<\/jats:italic>C\u00e9lunk volt annak vizsg\u00e1lata, hogy az ajak- \u00e9s\/vagy sz\u00e1jpadhasad\u00e9k komplex kezel\u00e9se mennyiben t\u00e9r el genetikai szindr\u00f3m\u00e1t mutat\u00f3 \u00e9s nem mutat\u00f3 gyermekekben.<jats:italic>M\u00f3dszer:<\/jats:italic>A P\u00e9csi Hasad\u00e9k Munkacsoport \u00e1ltal 1999 \u00e9s 2015 k\u00f6z\u00f6tt kezelt \u00e9s gondozott gyermekek dokument\u00e1ci\u00f3j\u00e1t tekintett\u00fck \u00e1t retrospekt\u00edv m\u00f3don. A vizsg\u00e1lati m\u00f3dszer kieg\u00e9sz\u00fclt genetikai \u00e9s epidemiol\u00f3giai adatokkal.<jats:italic>Eredm\u00e9nyek:<\/jats:italic>A vizsg\u00e1lt peri\u00f3dusban 607 gyermek ker\u00fclt gondoz\u00e1sba. Huszon\u00f6t esetben (4,11%) t\u00e1rsult az ajak- \u00e9s\/vagy sz\u00e1jpadhasad\u00e9k egy\u00e9b fejl\u0151d\u00e9si rendelleness\u00e9gekkel. Mind\u00f6sszesen 16 (2,63%) gyermek ker\u00fclt az egy\u00e9rtelm\u0171en bizony\u00edthat\u00f3 szindr\u00f3m\u00e1s csoportba. Az \u00edgy l\u00e9trej\u00f6tt mint\u00e1ban 8 k\u00fcl\u00f6nb\u00f6z\u0151 szindr\u00f3ma jelent meg, a Robin-szekvencia alkotta az \u00f6sszes eset 50%-\u00e1t. Tizenh\u00e1rom szindr\u00f3m\u00e1s gyermek eset\u00e9ben t\u00e9rt el a kezel\u00e9si algoritmus a megszokott\u00f3l. Az elt\u00e9r\u00e9sek oka \u2013 egy kiv\u00e9tel\u00e9vel \u2013 visszavezethet\u0151 volt a genetikai betegs\u00e9gre.<jats:italic>K\u00f6vetkeztet\u00e9s:<\/jats:italic>Az ajak- \u00e9s\/vagy sz\u00e1jpadhasad\u00e9kos szindr\u00f3m\u00e1s gyermekek kezel\u00e9se jelent\u0151sen elt\u00e9rt a szok\u00e1sos kezel\u00e9si algoritmust\u00f3l. A szindr\u00f3m\u00e1hoz tartoz\u00f3 egy\u00e9b rendelleness\u00e9gek (m\u0171t\u00e9ti) kezel\u00e9se el\u0151nyt \u00e9lvezett az ajak- \u00e9s\/vagy sz\u00e1jpadhasad\u00e9k rekonstrukci\u00f3ja el\u0151tt. Orv Hetil. 2022; 163(21): 826\u2013831.<\/jats:p>","DOI":"10.1556\/650.2022.32500","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T13:36:23Z","timestamp":1668778583000},"page":"826-831","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["Ajak- \u00e9s sz\u00e1jpadhasad\u00e9kkal t\u00e1rsult genetikai szindr\u00f3m\u00e1s gyermekek komplex ell\u00e1t\u00e1sa"],"prefix":"10.1556","volume":"163","author":[{"given":"Attila","family":"V\u00e1sty\u00e1n","sequence":"first","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika, Manu\u00e1lis Tansz\u00e9k P\u00e9cs, J\u00f3zsef Attila u 7., 7623 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teodor Barna","family":"Maros","sequence":"additional","affiliation":[{"name":"Pest Megyei Fl\u00f3r Ferenc K\u00f3rh\u00e1z, F\u00fcl-Orr-G\u00e9g\u00e9szeti \u00e9s Gyermek F\u00fcl-Orr-G\u00e9g\u00e9szeti Oszt\u00e1ly Kistarcsa Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga Am\u00e1lia","family":"S\u00e1ndor-Bajusz","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermek- \u00e9s Ifj\u00fas\u00e1g Pszichi\u00e1triai Oszt\u00e1ly P\u00e9cs Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Vajda","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Fog\u00e1szati \u00e9s Sz\u00e1jseb\u00e9szeti Klinika P\u00e9cs Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Orvosi Genetikai Int\u00e9zet P\u00e9cs Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","unstructured":"1 Fraser FC. 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