Cornelia de Lange Syndrome with Hypernatremia: Two Case Reports

Abstract

Cornelia de Lange syndrome (CdLS), is a genetical syndrome which can be seen as hereditary, or sporadically. Characteristical appearance is very crucial for diagnosis. Although almost all patient shave characteristical face appearance, depending on the severity of the cases, some accompanying symptoms could be skeletal and extremity defects, gastrointestinal system diseases, central nervous system anomalies and related diseases, genitourinary system anomalies, or heart defects, vision and hearing problems. In this paper, two patients with holoprosencephaly and recurrent episodes of hypernatremia are minded us to reconsider CdLS as a differential diagnosis of hypernatremia. We also point out some important steps in the treatment of the hypernatremia.