Journals / Ege Pediatri Bülteni / 2002 / Cilt: 9 - Sayı: 4

Walker-warburg syndrome: A case report

Walker-warburg sendromu: Bir olgu sunumu

Pages
195–197
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

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

In this report 6 months old boy diagnosed as WWS is presented and differential diagnosis with Fukuyama type and Finnish type congenital muscular dystrophies is made.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Walker-Warburg Syndrome (WWS) is one of the syndromes presented with congenital muscular dystrophy and lissencephaly.
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Key Findings & Data:This rare autosomal recessive disorder is characterized by muscle, eye and brain anomalies.
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Conclusion & Impact:In this report 6 months old boy diagnosed as WWS is presented and differential diagnosis with Fukuyama type and Finnish type congenital muscular dystrophies is made.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Walker-Warburg Syndrome (WWS) is one of the syndromes presented with congenital muscular dystrophy and lissencephaly. This rare autosomal recessive disorder is characterized by muscle, eye and brain anomalies. In this report 6 months old boy diagnosed as WWS is presented and differential diagnosis with Fukuyama type and Finnish type congenital muscular dystrophies is made.

Özet

Walker-Warburg Sendromu, konjenital müsküler distrofi ve lizenseı'alinin birlikte görüldüğü sendromlardan biridir. Kas, göz ve beyin anomalilerini içeren bu sendrom otozomal resesif geçişlidir. Bu makalede WWS tanısı alan 6 aylık bir erkek olgu sunularak Fukuyama tipi KMD ve Fin tipi kas-göz-beyin hastalığı ile ayırıcı tanısı yapılmıştır.

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Cite This Article

ÇALLI, C., SARIOĞLU, B., TÜTÜNCÜOĞLU, S., SERDAROĞLU, G. (2022). Walker-warburg syndrome: A case report. Ege Pediatri Bülteni, Cilt: 9 - Sayı: 4, 195–197. https://ajindex.com/articles/495859

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References (8)

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