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Journals / Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi / 2003 / Cilt: 17 - Sayı: 1

A case with Williams syndrome associated with isolated peripheral pulmonary stenosis

İzole periferik pulmoner arter darlığı ile birlikte olan Williams sendromlu bir olgu

Nurettin ÜNAL
Mustafa KÖSECİK
Sağın Gül SAYLAM
Özlem GİRAY
Mustafa KIR
Şebnem PAYTONCU
Soner KUMTEPE
Adnan AKÇORAL
Derya ERÇAL
Pages
49–52
DOI
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AI Summary & Key Takeaways

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

In this report, we present an eighteen-month-old boy with Williams syndrome who has typical facies, bilateraly peripheral pulmonary artery stenoses and elastin gene deletion on 7q 11 with molecular cytogenetics.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Williams syndrome is characterized by typical facies, cardiovascular anomalies, supravalvular aortic stenosis being the most common, and mental retardation.
📊
Key Findings & Data:Peripheral pulmonary artery stenoses as the sole cardiovascular anomaly are very rare.
💡
Conclusion & Impact:In this report, we present an eighteen-month-old boy with Williams syndrome who has typical facies, bilateraly peripheral pulmonary artery stenoses and elastin gene deletion on 7q 11 with molecular cytogenetics.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Pulmoner kapak darlığı · Çocuk · Elastin

Abstract

Williams syndrome is characterized by typical facies, cardiovascular anomalies, supravalvular aortic stenosis being the most common, and mental retardation. Peripheral pulmonary artery stenoses as the sole cardiovascular anomaly are very rare. In this report, we present an eighteen-month-old boy with Williams syndrome who has typical facies, bilateraly peripheral pulmonary artery stenoses and elastin gene deletion on 7q 11 with molecular cytogenetics.

Özet

Williams sendromu tipik yüz görünümü, kardiyovaskuler anomaliler, özellikle supravalvar aort darlığı ve mental retardasyonla karekterizedir. Sendromda periferik pulmoner alter darlıkları tek başına nadir görülen kardiyovasküler anomalidir. Bu makalede tipik yüz görünümü, bilateral multipl periferik pulmoner arter darlıkları olan ve moleküler sitogenetik incelemesinde 7q 11'de elastin gen delesyon varlığı gösterilen Williams sendromlu on sekiz aylık bir erkek olgu sunuldu.

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Cite This Article

ÜNAL, N., KÖSECİK, M., SAYLAM, S. G., GİRAY, Ö., KIR, M., PAYTONCU, Ş., KUMTEPE, S., AKÇORAL, A., ERÇAL, D. (2003). A case with Williams syndrome associated with isolated peripheral pulmonary stenosis. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, Cilt: 17 - Sayı: 1, 49–52. https://ajindex.com/articles/212849

References (12)

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