ABSTRACT

Deletion in 18p chromosome (18p- syndrome) is a quite rare chromosomal disorder including diversely phenotypic properties. Mental retardation, failure to thrive, round face, dysplastic ears, craniofacial dysmorphism as wide mouth and anomaly of teeth, brain, genital system, eye and heart are main clinical features. We herein report a newborn with dysmorphic face features, who was admitted due to severe dehydration and identified to have protein C deficiency and intracranial hemorrhage.

Keywords: Intracranial hemorrhage, protein C deficiency, 18p- syndrome