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Journals / Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi / 2020 / Cilt: 17 - Sayı: 3

A case of Asphyxiated Thoracic Dystrophy (Jeune Syndrome) diagnosed in neonatal period

Yenidoğan döneminde tanı alan Asfiktik Torasik Distrofi (Jeune Sendromu) vakası

Fevzi KAHVECİ
Evrim ALYAMAC DİZDAR
Fatma SARI
Pages
465–467
Publication Date
2020-09-30
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We aimed to emphasize the necessity of early diagnosis and close monitoring because of the risk of sudden death.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Jeune Syndrome is a rare autosomal recessive inherited skeletal chondrodystrophy.
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Key Findings & Data:Patients usually die of respiratory failure during early infancy.
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Conclusion & Impact:We aimed to emphasize the necessity of early diagnosis and close monitoring because of the risk of sudden death.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:neonatoloji · dar göğüs · Jeune Sendrom

Abstract

Jeune Syndrome is a rare autosomal recessive inherited skeletal chondrodystrophy. Patients usually die of respiratory failure during early infancy. The disease has a wide clinical picture including renal dysplasia, hepatic and pancreatic fibrosis. Here, we present a case of Jeune Syndrome diagnosed by narrowing of thoracic anterior posterior and transverse diameter and flattening of acetabular ceiling. We aimed to emphasize the necessity of early diagnosis and close monitoring because of the risk of sudden death.

Özet

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.

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Cite This Article

KAHVECİ, F., DİZDAR, E. A., SARI, F. (2020). A case of Asphyxiated Thoracic Dystrophy (Jeune Syndrome) diagnosed in neonatal period. Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi, Cilt: 17 - Sayı: 3, 465–467. https://ajindex.com/articles/676659

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References (8)

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