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Yenidoğan döneminde hipernatremik dehidratasyon ve intrakraniyal kanama ile başvuran 18p- sendromu: olgu sunumu

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

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2006

Key Words:

Keywords (Original Language):

Author Name
Abstract (2. Language): 
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.
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Abstract (Original Language): 
On sekizinci kromozomun kısa kolunda delesyon (18p- sendromu) fenotipik özellikleri oldukça geniş bir yelpazede ortaya çıkan ve oldukça nadir karşılaşılan yapısal kromozomal bir hastalıktır. Mental retardasyon, büyüme geriliği, yuvarlak yüz, displastik kulaklar, geniş ağız ve diş anomalileri gibi kraniyofasiyal dismorfizm bulguları ve ekstremite, genital, beyin, göz ve kalp anormallikleri temel klinik özelliklerdir. Bu yazıda rutin yenidoğan muayenesi sırasında dismorfik yüz görünümü belirlenen, ciddi dehidratasyon bulguları nedeniyle hastaneye yatırılarak izlenen ve bu esnada protein C düzeyinde düşüklük ve intrakraniyal kanama saptanan 18p- sendromlu bir olgu sunulmuş ve tartışılmıştır.
FULL TEXT (PDF): 
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  • 1
37-39
  • Turkish

REFERENCES

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