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Journals / Erciyes Tıp Dergisi / 2004 / Cilt: 26 - Sayı: 4

Hypernatremic dehydration and renal vein thrombosis in a case with Cornelia de Lange syndrome associated with holoprosencephaly

Cornelia de Lange sendromuna eşlik eden holoprosensefalili olguda hipernatremik dehidratasyon ve renal ven trombozu

Salih GÖZMEN
İpek AKİL
Hasan YÜKSEL
Serdar TARHAN
Pages
201–205
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 paper, we discussed hypernatremic dehydration and renal vein thrombosis complications in a case with CDL associated with holoprosencephaly.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cornelia de Lange syndrome (CDL) has characteristic features such as microcephaly, synophrys, long philtrum and intrauterine growth retardation, and mental and motor retardation.
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Key Findings & Data:The syndrome is usually sporadic, although autosomal dominant and recessive inheritance might be a factor in some cases.
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Conclusion & Impact:In this paper, we discussed hypernatremic dehydration and renal vein thrombosis complications in a case with CDL associated with holoprosencephaly.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Cornelia de Lange syndrome (CDL) has characteristic features such as microcephaly, synophrys, long philtrum and intrauterine growth retardation, and mental and motor retardation. The syndrome is usually sporadic, although autosomal dominant and recessive inheritance might be a factor in some cases. Although midline malformations of the brain are common in CDL, holoprosencephaly is not usual. In this paper, we discussed hypernatremic dehydration and renal vein thrombosis complications in a case with CDL associated with holoprosencephaly.

Özet

Cornelia de Lange sendromu (CDL), mikrosefalı, sinofriz, uzun jiltrum gibi karakteristik yüz görünümü bulgularının bulunduğu, intrauterin büyüme genliği, mental ve gelişimsel gerilikle seyreden, çoğunlukla sporadik olmakla beraber otozomal dominant veya resesif kalıtım paterninin de sorumlu olabildiği bir genetik sendromdur. Beyin orta hat anomalileri bu sendroma sıklıkla eşlik etmektedir, ancak holoporozensefali ile beraberliği sık değildir. Bu yazıda, CDL sendromuna eşlik eden holoprozensefalili olguda, hipernatremik dehidratasyon, akut böbrek yetmezliği ve renal ven trombozu komplikasyonları tartışılmıştır.

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Cite This Article

GÖZMEN, S., AKİL, İ., YÜKSEL, H., TARHAN, S. (2022). Hypernatremic dehydration and renal vein thrombosis in a case with Cornelia de Lange syndrome associated with holoprosencephaly. Erciyes Tıp Dergisi, Cilt: 26 - Sayı: 4, 201–205. https://ajindex.com/articles/502844

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