{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T02:33:05Z","timestamp":1785465185793,"version":"3.56.0"},"reference-count":22,"publisher":"Akademiai Kiado Zrt.","issue":"17","license":[{"start":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T00:00:00Z","timestamp":1619308800000},"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":[[2021,4,25]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold> Az achondroplasia kialakul\u00e1s\u00e1\u00e9rt az\n                        <jats:italic>FGFR3<\/jats:italic>-g\u00e9n mut\u00e1ci\u00f3ja tehet\u0151 felel\u0151ss\u00e9, mely a porc\n                    n\u00f6veked\u00e9si lemez\u00e9ben tal\u00e1lhat\u00f3 chondrocyt\u00e1k \u00e9r\u00e9s\u00e9ben okoz zavart. Az\n                    esetbemutat\u00e1sban szerepl\u0151 l\u00e1nygyermekn\u00e9l a sz\u00fclet\u00e9st k\u00f6vet\u0151 els\u0151 h\u00f3napban a\n                    klinikai, laborat\u00f3riumi \u00e9s r\u00f6ntgenvizsg\u00e1latok alapj\u00e1n achondroplasia\n                    igazol\u00f3dott. A klinikai t\u00fcnetek k\u00f6z\u00e9 tartoznak a r\u00f6vid v\u00e9gtagok \u2013 k\u00fcl\u00f6n\u00f6sen a\n                    proximalis szegmensben \u2013, a macrocephalia, a hypotonia \u00e9s a horkol\u00e1s. Szembet\u0171n\u0151\n                    a k\u00f6z\u00e9parc hypoplasi\u00e1ja. A k\u00f6z\u00e9pf\u00fcl diszfunkci\u00f3ja tov\u00e1bb s\u00falyosb\u00edtja a k\u00f3rk\u00e9pet,\n                    sok esetben megfigyelhet\u0151 a hall\u00e1s nagyfok\u00fa cs\u00f6kken\u00e9se, illetve kezel\u00e9s\n                    hi\u00e1ny\u00e1ban ak\u00e1r a hall\u00e1s elveszt\u00e9se. A k\u00f6zlem\u00e9ny r\u00e9szletesen bemutatja az\n                    obstrukt\u00edv alv\u00e1si apnoe szindr\u00f3ma diagn\u00f3zisrendszer\u00e9t \u00e9s kezel\u00e9si alternat\u00edv\u00e1it,\n                    hangs\u00falyozva az orthodontiai szempontokat. A f\u00fcl-orr-g\u00e9g\u00e9szeti \u00e9s a\n                    fogszab\u00e1lyoz\u00f3 ter\u00e1pi\u00e1nak k\u00f6sz\u00f6nhet\u0151en, a diagn\u00f3zist\u00f3l sz\u00e1m\u00edtott harmadik \u00e9vre,\n                    az alv\u00e1si apnoe szindr\u00f3ma megsz\u00fcntet\u00e9s\u00e9vel a folyamatos pozit\u00edv nyom\u00e1s\u00fa\n                    l\u00e9legeztet\u00e9st el lehetett hagyni. A horkol\u00e1s \u00e9s az alv\u00e1si apnoe szindr\u00f3ma\n                    kezel\u00e9se napjainkban egyre nagyobb hangs\u00falyt kap, melynek komplex kezel\u00e9s\u00e9ben a\n                    fogszab\u00e1lyoz\u00e1s is jelent\u0151s lehet. A harmonikus egy\u00fcttm\u0171k\u00f6d\u00e9s \u00e9s teamkezel\u00e9s\n                    beteg\u00fcnkn\u00e9l jelent\u0151s \u00e9letmin\u0151s\u00e9g-javul\u00e1st eredm\u00e9nyezett. Orv Hetil. 2021;\n                    162(17): 683\u2013688.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold> Development of achondroplasia is due to the mutation of\n                        <jats:italic>FGFR3<\/jats:italic> gene, which disrupts the maturation of chondrocytes\n                    found in the growth plate. The diagnosis of the girl in the present case study\n                    was established based on clinical symptoms, laboratory tests and X-ray imaging\n                    in the first month following childbirth. Clinical symptoms include shorter limbs\n                    especially in the proximal segments, macrocephaly, hypotonia and snoring.\n                    Hypoplasia of the midface is apparent. Dysfunction of the middle ear further\n                    worsens the condition, in many cases severe hearing loss and, without treatment,\n                    even deafness can be observed. The publication describes the diagnostic criteria\n                    and therapeutic options of obstructive sleep apnea syndrome in detail, with an\n                    emphasis on the orthodontic aspects. A comprehensive combined three-year\n                    oto-laryngological and orthodontic treatment finally succeeded in controlling\n                    the sleep apnea syndrome and it was possible to discontinue the continuous\n                    positive airway pressure therapy by the end of the orthodontic therapy.\n                    Nowadays, even more alternative therapeutic approaches are available to treat\n                    snoring and sleep apnea syndromes, in which the role of orthodontics must not be\n                    neglected. Harmonic collaboration and team work treatment resulted in a\n                    significant improvement in the quality of life of our patient. Orv Hetil. 2021;\n                    162(17): 683\u2013688.<\/jats:p>","DOI":"10.1556\/650.2021.32074","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T10:05:43Z","timestamp":1630404343000},"page":"683-688","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":1,"title":["Az achondroplasia a fogszab\u00e1lyoz\u00e1s szemsz\u00f6g\u00e9b\u0151l"],"prefix":"10.1556","volume":"162","author":[{"given":"Zsuzsanna","family":"Gurd\u00e1n","sequence":"first","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, Fogorvostudom\u00e1nyi Szak, Gyermek- \u00e9s Ifj\u00fas\u00e1gi Fog\u00e1szati Tansz\u00e9k, P\u00e9cs, Dischka Gy\u0151z\u0151 u. 5., 7621"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f3zsef","family":"Szalma","sequence":"additional","affiliation":[{"name":"2 P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, Fogorvostudom\u00e1nyi Szak, Arc-, \u00c1llcsont- \u00e9s Sz\u00e1jseb\u00e9szeti Tansz\u00e9k, P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e1lma","family":"Benedek","sequence":"additional","affiliation":[{"name":"3 Heim P\u00e1l Orsz\u00e1gos Gyermekgy\u00f3gy\u00e1szati Int\u00e9zet, Alv\u00e1sdiagnosztikai \u00e9s Ter\u00e1pi\u00e1s Labor, Budapest"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"13272","DOI":"10.1074\/jbc.M110.205583","article-title":"FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism","volume":"286","author":"1 He","year":"2011","unstructured":"1 He L, Shobnam N, Wimley WC, et al. 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