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Journals / Bakırköy Tıp Dergisi / 2013 / Cilt: 9 - Sayı: 4

Cornelia de Lange syndrome presenting with hypernatremic dehydration attacks

Hipernatremik dehidratasyon atakları ile gelen cornelia de lange sendromu

Murat HIZARCIOĞLU
Pamir GÜLEZ
Deniz TIRAK
Pages
186–189
DOI
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AI Summary & Key Takeaways

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

In this article we discussed hypernatremic dehydration and central diabetes mellitus complications in a case with CDL associated with haloprosencephaly.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cornelia de Lange syndrome (CDL), is a genetic syndrome characterized by microcephaly, synophrys, long philtrum, intrauterine growth retardation, mental and developmental retardation.
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Key Findings & Data:Although malformations of the midline brain are common in CDL, holoprosencephaly is not usual. hypernatremic dehydration, central diabetes insipitus can be occur with cenral malformations.
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Conclusion & Impact:In this article we discussed hypernatremic dehydration and central diabetes mellitus complications in a case with CDL associated with haloprosencephaly.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Cornelia de Lange syndrome (CDL), is a genetic syndrome characterized by microcephaly, synophrys, long philtrum, intrauterine growth retardation, mental and developmental retardation. Although malformations of the midline brain are common in CDL, holoprosencephaly is not usual. hypernatremic dehydration, central diabetes insipitus can be occur with cenral malformations. In this article we discussed hypernatremic dehydration and central diabetes mellitus complications in a case with CDL associated with haloprosencephaly.

Özet

Cornelia de Lange sendromu (CDL), mikrosefali, sinofrizi, uzun filtrum gibi karakteristik yüz görünümü bulgularının bulunduğu, intrauterin büyüme, mental ve motor gelişme geriliğiyle seyreden genetik bir sendromdur. Beyin orta hat anomalileri bu sendroma sıklıkla eşlik etmektedir. Ancak holoporozensefali ile beraberliği sık değildir. CDL sendromlu olgularda intrakranial anomaliler hipernatremik dehidratasyon ve santral diabetes insipitusa neden olmaktadır. Bu yazıda hipernatremik dehidratasyon atakları ile gelen ve holoprozensefali saptanan bir CDL sendromu sunulmuştur.

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Cite This Article

HIZARCIOĞLU, M., GÜLEZ, P., TIRAK, D. (2013). Cornelia de Lange syndrome presenting with hypernatremic dehydration attacks. Bakırköy Tıp Dergisi, Cilt: 9 - Sayı: 4, 186–189. https://ajindex.com/articles/129170

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