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ANALATREZİ NEDENİ İLE KLİNİĞİMİZE BAŞVURAN İKİ KARDEŞ OLGUDA COCKAYNE SENDROMU

COCKAYNE SYNDROME IN TWO SISTERS PRESENTING TO OUR CLINIC WITH ANALATRESIA

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2008

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Keywords (Original Language):

Author Name
Abstract (2. Language): 
Cockayne syndrome is a rare and devastating genetic disease causing premature death.The basic findings of the disease are as follows: Sensitivity to sun burning by UV-C from sunlight and other sources,developmental delay, characteristic facies (facial appearance), structural anomalies,progressive neuromotor retardation and behavioral disorders. Both of the sister cases had the characteristics of the Cockayne syndrome type 2. Common features of our patients who are born with anal atresia are developmental delay, characteristic facies, progressive neuromotor retardation and photosensitivity. It is essential that this syndrome has to be diagnosed by pediatrician in order to families receive genetic counselling. Therefore, two sisters with Cockayne Syndrome were presented.
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Abstract (Original Language): 
Cockayne sendromu nadir rastlanan,çok erken yaflta hastay› ölüme götüren a¤›r bir genetik hastal›kt›r. Hastal›¤›n temel bulgular›; günefl ›fl›¤›na hassasiyet, büyüme-geliflme gerili¤i, tipik yüz görünümü ve yap›sal anomaliler, nöromotor retardasyon, davran›flsal bozukluklard›r. Her iki kardefl olgumuz serebrookülofasiyel sendrom olarak bilinen sendromun 2. tipinin özelliklerini tafl›maktayd›. Her ikisi de anal atrezi ile do¤an hastalar›m›z›n ortak özellikleri; büyüme-geliflme gerili¤i, tipik yüz görünümleri,ilerleyici mental-motor retardasyon ve fotosensivitedir. Ailelerin genetik dan›flmanl›k hizmeti alabilmeleri için, çocuk hekiminin bu sendromu tan›mas› önemlidir.
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  • 2
49-51
  • Turkish

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