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Journals / European Archives of Medical Research / 2020 / Cilt: 36 - Sayı: 3

Cornelia de Lange Syndrome with Hypernatremia: Two Case Reports

Hasan DURSUN
Ece KURUL
Soner SAZAK
Ahmet BEKTAŞOĞLU
Pages
218–221
Publication Date
2022-11-06
DOI
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AI Summary & Key Takeaways

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

We also point out some important steps in the treatment of the hypernatremia.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cornelia de Lange syndrome (CdLS), is a genetical syndrome which can be seen as hereditary, or sporadically.
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Key Findings & Data:Characteristical appearance is very crucial for diagnosis.
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Conclusion & Impact:We also point out some important steps in the treatment of the hypernatremia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Cornelia de Lange syndrome (CdLS), is a genetical syndrome which can be seen as hereditary, or sporadically. Characteristical appearance is very crucial for diagnosis. Although almost all patient shave characteristical face appearance, depending on the severity of the cases, some accompanying symptoms could be skeletal and extremity defects, gastrointestinal system diseases, central nervous system anomalies and related diseases, genitourinary system anomalies, or heart defects, vision and hearing problems. In this paper, two patients with holoprosencephaly and recurrent episodes of hypernatremia are minded us to reconsider CdLS as a differential diagnosis of hypernatremia. We also point out some important steps in the treatment of the hypernatremia.

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Cite This Article

DURSUN, H., KURUL, E., SAZAK, S., BEKTAŞOĞLU, A. (2022). Cornelia de Lange Syndrome with Hypernatremia: Two Case Reports. European Archives of Medical Research, Cilt: 36 - Sayı: 3, 218–221. https://ajindex.com/articles/650414

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