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Case Report

BTDMJB. 2013; 9(4): 186-189


Cornelia de Lange syndrome presenting with hypernatremic dehydration attacks

Murat Hızarcıoğlu, Pamir Gülez, Deniz Tırak.

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.

Key words: Cornelia de Lange syndrome, dehydration hypernatremia, semilobar holoprosencephaly



Article Language: Turkish English


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