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- W3090359567 abstract "Jeune Sendromu nadir görülen otozomal resesif kalıtım gösteren bir iskelet kondrodistrofisidir. Hastalar genellikle solunum yetmezliğinden erken süt çocukluğu döneminde kaybedilirler. Hastalık renal displazi, hepatik ve pankreatik fibrozisi içeren geniş bir klinik tabloya sahiptir. Burada toraks ön arka ve transvers çapta daralma, asetabular tavanda düzleşme saptanarak tanı konulan Jeune Sendromlu bir olguyu sunduk. Ani ölüm riski taşımaları nedeniyle erken tanınıp yakından takip edilebilmesi gerekliliğini vurgulamayı amaçladık." @default.
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- W3090359567 date "2020-09-30" @default.
- W3090359567 modified "2023-10-16" @default.
- W3090359567 title "Yenidoğan döneminde tanı alan Asfiktik Torasik Distrofi (Jeune Sendromu) vakası" @default.
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- W3090359567 doi "https://doi.org/10.38136/jgon.665794" @default.
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