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Journals / Marmara Medical Journal / 2000 / Cilt: 13 - Sayı: 3

BARDET-BIEDL SYNDROME

Nurdan EROL
Aysu TÜRKMEN
Ahmet ÖZGÜNER
Serpil YAVRUCU
CAN ERZİK
Kürşat ÖZER
Pages
156–161
DOI
—
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AI Summary & Key Takeaways

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

We would like to present this case report.Key Words: Bardet Biedl syndrome, Obesity, Retinitis pigmentosa, Hypogonadism, Mental retardation, Polydactyly.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:A 3,5-year-old boy was admitted with febrile convulsion and bronchitis.
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Key Findings & Data:He had polydactyly, obesity, and micropenis on his physical examination which indicated the Bardet Biedl syndrome.
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Conclusion & Impact:We would like to present this case report.Key Words: Bardet Biedl syndrome, Obesity, Retinitis pigmentosa, Hypogonadism, Mental retardation, Polydactyly.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

A 3,5-year-old boy was admitted with febrile convulsion and bronchitis. He had polydactyly, obesity, and micropenis on his physical examination which indicated the Bardet Biedl syndrome. Then further investigations were made to make the definitive diagnosis, in the light of literature. We would like to present this case report.Key Words: Bardet Biedl syndrome, Obesity, Retinitis pigmentosa, Hypogonadism, Mental retardation, Polydactyly.

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Cite This Article

EROL, N., TÜRKMEN, A., ÖZGÜNER, A., YAVRUCU, S., ERZİK, C., ÖZER, K. (2000). BARDET-BIEDL SYNDROME. Marmara Medical Journal, Cilt: 13 - Sayı: 3, 156–161. https://ajindex.com/articles/284214

References (11)

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