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Journals / The Journal of Pediatric Research / 2018 / Cilt: 5 - Sayı: 3

A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome

Yelda TÜRKMENOĞLU
Yeşim ACAR
Fatih Cemal ÖZDEMİR
Ralfi SINGER
Afig BERDELİ
Servet Erdal ADAL
Pages
161–163
DOI
—
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AI Summary & Key Takeaways

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

We present a case of ARC syndrome diagnosed by genetic analysis.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder.
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Key Findings & Data:Severe growthretardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia and corpus callosum dysgenesis werelater included as further features of this syndrome.
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Conclusion & Impact:We present a case of ARC syndrome diagnosed by genetic analysis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growthretardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia and corpus callosum dysgenesis werelater included as further features of this syndrome. We present a case of ARC syndrome diagnosed by genetic analysis.

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Cite This Article

TÜRKMENOĞLU, Y., ACAR, Y., ÖZDEMİR, F. C., SINGER, R., BERDELİ, A., ADAL, S. E. (2018). A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome. The Journal of Pediatric Research, Cilt: 5 - Sayı: 3, 161–163. https://ajindex.com/articles/362742

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References (6)

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