{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:49:15Z","timestamp":1760906955788},"reference-count":19,"publisher":"Akademiai Kiado Zrt.","issue":"24","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,6,1]]},"abstract":"<jats:p>A szerz\u0151k egy 18 \u00e9ves, m\u00e1sodszor sz\u00fcl\u0151 eset\u00e9t ismertetik, akinek els\u0151 terhess\u00e9ge polyhydramnionnal sz\u00f6v\u0151d\u00f6tt, majd a 30. geszt\u00e1ci\u00f3s h\u00e9ten a magzat m\u00e9hen bel\u00fcli elhal\u00e1sa k\u00f6vetkezett be. A dysmorph k\u00fcllem\u0171 magzatot akkor lep\u00e9nylev\u00e1l\u00e1s miatt cs\u00e1sz\u00e1rmetsz\u00e9ssel emelt\u00e9k ki, a rendelleness\u00e9gr\u0151l pontos le\u00edr\u00e1s nem sz\u00fcletett. Jelen cikk\u00fcnk t\u00e1rgy\u00e1t k\u00e9pez\u0151 m\u00e1sodik terhess\u00e9ge 19. het\u00e9t\u0151l \u00e9szlelt\u00fck a k\u00e9s\u0151bb extr\u00e9m m\u00e9rt\u00e9ket el\u00e9r\u0151 polyhydramniont, majd a terhess\u00e9g el\u0151rehaladt\u00e1val sorra jelentkeztek magzati malformati\u00f3ra utal\u00f3 ultrahangjelek: abnorm\u00e1lis helyzet\u0171 v\u00e9gtagok, sz\u0171k mellkas, koponya k\u00f6r\u00fcli oedema, a gyomortel\u0151d\u00e9s hi\u00e1nya. A 34. h\u00e9ten tehermentes\u00edt\u0151 amniocentesis v\u00e1lt sz\u00fcks\u00e9gess\u00e9, az ekkor elv\u00e9gzett magzati kromosz\u00f3mavizsg\u00e1lat norm\u00e1lis karyotypust igazolt. A 39. geszt\u00e1ci\u00f3s h\u00e9ten pozit\u00edv amnioszk\u00f3pos lelet miatti sz\u00fcl\u00e9sindukci\u00f3 sor\u00e1n tart\u00f3s magzati bradycardia jelentkezett, ez\u00e9rt s\u00fcrg\u0151s cs\u00e1sz\u00e1rmetsz\u00e9st v\u00e9gezt\u00fcnk. A 3000 grammos fi\u00fa \u00fajsz\u00fcl\u00f6tt a komplex resuscitatio ellen\u00e9re, befoly\u00e1solhatatlan l\u00e9gz\u00e9si el\u00e9gtelens\u00e9g miatt 2,5 \u00f3r\u00e1s kor\u00e1ban exit\u00e1lt. A k\u00f3rbonctani \u00e9s hisztopatol\u00f3giai vizsg\u00e1lat a k\u00f6vetkez\u0151 fenot\u00edpusos jegyeket \u00edrta le: nagy, oedem\u00e1s fej, micrognathia, macroglossia, g\u00e9geoedema, sz\u0171k mellkas t\u00fcd\u0151hypoplasi\u00e1val, gracilis v\u00e9gtagok atr\u00f3fi\u00e1s izomzattal, gracilis ujjak karom\u00e1ll\u00e1sban, valamint r\u00f6vid k\u00f6ld\u00f6kzsin\u00f3r. Az anamn\u00e9zis, a k\u00f3rlefoly\u00e1s \u00e9s a fenot\u00edpusos jegyek alapj\u00e1n fel\u00e1ll\u00edthat\u00f3 volt az I-es t\u00edpus\u00fa Pena\u2013Shokeir-szindr\u00f3ma diagn\u00f3zisa. A k\u00f6zlem\u00e9ny m\u00e1sodik r\u00e9sz\u00e9ben irodalmi adatok alapj\u00e1n \u00e1ttekintj\u00fck a k\u00f3rk\u00e9p etiol\u00f3gi\u00e1j\u00e1t, patogenezis\u00e9t, praenatalis diagnosztik\u00e1j\u00e1t \u00e9s differenci\u00e1ldiagnosztik\u00e1j\u00e1t, valamint a genetikai tan\u00e1csad\u00e1s szempontjait. Tudom\u00e1sunk szerint a jelen k\u00f6zlem\u00e9nnyel haz\u00e1nkban el\u0151sz\u00f6r sz\u00e1molunk be diagnosztiz\u00e1lt Pena\u2013Shokeir-szindr\u00f3m\u00e1s esetr\u0151l.<\/jats:p>","DOI":"10.1556\/oh.2010.28871","type":"journal-article","created":{"date-parts":[[2010,6,3]],"date-time":"2010-06-03T01:05:59Z","timestamp":1275527159000},"page":"990-993","source":"Crossref","is-referenced-by-count":2,"title":["Pena-Shokeir syndrome type I \u2013 combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia"],"prefix":"10.1556","volume":"151","author":[{"given":"Tam\u00e1s","family":"Deli","sequence":"first","affiliation":[{"name":"1 Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Sz\u00fcl\u00e9szeti \u00e9s N\u0151gy\u00f3gy\u00e1szati Klinika Debrecen Nagyerdei krt. 98. 4032"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tam\u00e1s","family":"Kov\u00e1cs","sequence":"additional","affiliation":[{"name":"1 Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Sz\u00fcl\u00e9szeti \u00e9s N\u0151gy\u00f3gy\u00e1szati Klinika Debrecen Nagyerdei krt. 98. 4032"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0022-3476(74)80119-8","volume":"85","year":"1974","journal-title":"J. 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