18p- syndrome in a newborn with hypernatremic dehydration and intracranial hemorrhage: A case report Yenidoǧan döneminde hipernatremik dehidratasyon ve intrakraniyal kanama ile başvuran 18p- sendromu: Olgu sunumu


Kul M., Gülgün M., VURUCU S., Kesik V., Bahçe M., Sarici S. Ü., ...Daha Fazla

Gulhane Medical Journal, cilt.48, sa.1, ss.37-39, 2006 (Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 1
  • Basım Tarihi: 2006
  • Dergi Adı: Gulhane Medical Journal
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.37-39
  • Anahtar Kelimeler: 18p- syndrome, Intracranial hemorrhage, Protein C deficiency
  • Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

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. © Gülhane Askeri Tip Akademisi 2006.