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]

Simple item page
dc.contributor.authorAkil I.
dc.contributor.authorYüksel H.
dc.contributor.authorGözmen S.
dc.contributor.authorTarhan S.
dc.date.accessioned2024-07-22T08:24:21Z
dc.date.available2024-07-22T08:24:21Z
dc.date.issued2004
dc.description.abstractCornelia 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.
dc.identifier.issn1300199X
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/19941
dc.language.isoTurkish
dc.subjectarticle
dc.subjectautosomal dominant inheritance
dc.subjectautosomal recessive inheritance
dc.subjectcase report
dc.subjectclinical feature
dc.subjectde Lange syndrome
dc.subjectdehydration
dc.subjectdisease association
dc.subjectfacies
dc.subjectholoprosencephaly
dc.subjecthuman
dc.subjecthypernatremia
dc.subjectintrauterine growth retardation
dc.subjectkidney vein thrombosis
dc.subjectmental retardation malformation syndrome
dc.subjectmicrocephaly
dc.subjectmotor retardation
dc.subjectnewborn
dc.titleHypernatremic 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]
dc.typeArticle

Files

Collections

Scopus Koleksiyonu