18p- syndrome in a newborn with hypernatremic dehydration and intracranial hemorrhage: a case report
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Case Report
P: 37-39
March 2006

18p- syndrome in a newborn with hypernatremic dehydration and intracranial hemorrhage: a case report

Gulhane Med J 2006;48(1):37-39
1. GATA Neonatoloji Bilim Dalı
2. GATA Çocuk Sağlığı ve Hastalıkları Anabi-lim Dalı
3. GATA Pediyatrik Nöroloji Bilim Dalı
4. GATA Tıbbi Genetik Bilim Dalı
No information available.
No information available
Received Date: 30.03.2005
Accepted Date: 14.10.2005
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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