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Journals / Zeynep Kamil Tıp Bülteni / 2016 / Cilt: 47 - Sayı: 4

Antenatal Tanılı Turner Sendromunda Bilateral Renal Agenezi ve Aort Stenozu Bilateral Renal Agenesis and Aortic Stenosis In An Antenatally Diagnosed Turner Syndrome

Turner sendromu boyun, seksüel immatürite ve kubitus valgus özelliklerini gösteren yedi kadında tanımlan

Handan HAKYEMEZ TOPTAN
Nilgün KARADAĞ
Abdulhamit TUTEN
Tülin Gökmen YILDIRIM
Gülsen AKAY
Mehmet Burak MUTLU
Güner KARATEKİN
Pages
128–131
DOI
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AI Summary & Key Takeaways

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

Here we present an antenatally diagnosed Turner syndrome with bilateral renal agenesis, pulmonary hypoplasia and aortic stenosis

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Turner syndrome is a genetic disorder caused by loss or structural disorders of X chromosome.
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Key Findings & Data:A significant number of cases result with abortion.
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Conclusion & Impact:Here we present an antenatally diagnosed Turner syndrome with bilateral renal agenesis, pulmonary hypoplasia and aortic stenosis
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Turner syndrome is a genetic disorder caused by loss or structural disorders of X chromosome. A significant number of cases result with abortion. Clinical symptoms are not always apparent in the newborn period. Therefore it could be diagnosed in later years of life. Turner syndrome should be considered in patients with lymphedema on hands and feets, low hairline, short and webbed neck. Cardiovascular, genitourinary, endocrine system disorders could be accompanied. Here we present an antenatally diagnosed Turner syndrome with bilateral renal agenesis, pulmonary hypoplasia and aortic stenosis

Özet

Turner sendromu X kromozomunun birinin kaybı veya yapısal anomalisi ile karakterize kromozomal bir bozukluktur. Vakaların önemli bir bölümü abortus ile sonuçlanmaktadır. Klinik bulguları yenidoğan döneminde her zaman görülmeyebilir. Bu nedenle sonraki yaşlarda tanı alabilirler. Turner sendromu el ayak sırtında lenf ödem, düşük ense saç çizgisi, kısa yele boyun gösteren hastalarda düşünülmelidir. Bu sendroma kardiyovasküler, genitoüriner ve endokrin sistem anomalileri sıklıkla eşlik edebilmektedir. Bu olgu sunumunda bilateral renal agenezi, pulmoner hipoplazi ve aort stenozunun eşlik ettiği antenatal tanılı bir Turner sendromu olgusu sunulmuştur

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Cite This Article

TOPTAN, H. H., KARADAĞ, N., TUTEN, A., YILDIRIM, T. G., AKAY, G., MUTLU, M. B., KARATEKİN, G. (2016). Antenatal Tanılı Turner Sendromunda Bilateral Renal Agenezi ve Aort Stenozu Bilateral Renal Agenesis and Aortic Stenosis In An Antenatally Diagnosed Turner Syndrome. Zeynep Kamil Tıp Bülteni, Cilt: 47 - Sayı: 4, 128–131. https://ajindex.com/articles/335429

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References (2)

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