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

Akil I., YÜKSEL H., Gözmen S., TARHAN S.

Erciyes Tip Dergisi, vol.26, no.4, pp.201-205, 2004 (Scopus, TRDizin) identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 4
  • Publication Date: 2004
  • Journal Name: Erciyes Tip Dergisi
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.201-205
  • Keywords: Cornelia De lange syndrome, Dehydration, Hypernatremia, Kidney failure acute, Semilobar holoprosencephalys
  • Manisa Celal Bayar University Affiliated: Yes

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.