Hypernatremic dehydration and renal vein thrombosis in a case with Cornelia de Lange syndrome associated with holoprosencephaly; [Corneli̇a de Lange sendromuna eşli̇k eden holoprosensefali̇li̇ olguda hi̇pernatremi̇k dehi̇dratasyon ve renal ven trombozu]
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Date
2004
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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.
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Keywords
article , autosomal dominant inheritance , autosomal recessive inheritance , case report , clinical feature , de Lange syndrome , dehydration , disease association , facies , holoprosencephaly , human , hypernatremia , intrauterine growth retardation , kidney vein thrombosis , mental retardation malformation syndrome , microcephaly , motor retardation , newborn