Yıl: 2012 Cilt: 3 Sayı: 1 Sayfa Aralığı: 133 - 136 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management

Öz:
Kleidokranial displazi anormal klavikula, genişlemiş suturlar ve fontaneller, süpernumeral dişler, kısa boy ve diger bir çok iskeletsel değişiklikle karakterize otozomal dominant iskeletsel displazidir. Kleidokranial displazi, gen 6p21 genindeki şifreleme çevirme faktörü CBFA1 ve runtrelated transcription factor 2 (RUNX2) de meydana gelen mutasyonlardan kaynaklanır. Kleidokranial displazi tek başına bir uzman ekibi tarafından izlenmeli veya sorunları bilen bir uzman tarafından takip edilmelidir.
Anahtar Kelime:

Konular: Cerrahi

Kleidokranial displazi: Etiyoloji, klinikoradyolojik görüntüleme ve tedavi

Öz:
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal change. Cleidocranial dysplasia is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runtrelated transcription factor 2 (RUNX2). Individuals with CCD should be followed by either a team of specialist or by individual specialist familiar with the problems that can be associated with this condition.
Anahtar Kelime:

Konular: Cerrahi
Belge Türü: Makale Makale Türü: Kısa Bildiri Erişim Türü: Erişime Açık
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APA TOPTANCI İ, ÇOLAK H, KÖSEOĞLU S (2012). Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. , 133 - 136.
Chicago TOPTANCI İSMET REZANİ,ÇOLAK Hakan,KÖSEOĞLU SERHAT Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. (2012): 133 - 136.
MLA TOPTANCI İSMET REZANİ,ÇOLAK Hakan,KÖSEOĞLU SERHAT Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. , 2012, ss.133 - 136.
AMA TOPTANCI İ,ÇOLAK H,KÖSEOĞLU S Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. . 2012; 133 - 136.
Vancouver TOPTANCI İ,ÇOLAK H,KÖSEOĞLU S Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. . 2012; 133 - 136.
IEEE TOPTANCI İ,ÇOLAK H,KÖSEOĞLU S "Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management." , ss.133 - 136, 2012.
ISNAD TOPTANCI, İSMET REZANİ vd. "Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management". (2012), 133-136.
APA TOPTANCI İ, ÇOLAK H, KÖSEOĞLU S (2012). Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. Journal of Clinical and Experimental Investigations, 3(1), 133 - 136.
Chicago TOPTANCI İSMET REZANİ,ÇOLAK Hakan,KÖSEOĞLU SERHAT Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. Journal of Clinical and Experimental Investigations 3, no.1 (2012): 133 - 136.
MLA TOPTANCI İSMET REZANİ,ÇOLAK Hakan,KÖSEOĞLU SERHAT Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. Journal of Clinical and Experimental Investigations, vol.3, no.1, 2012, ss.133 - 136.
AMA TOPTANCI İ,ÇOLAK H,KÖSEOĞLU S Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. Journal of Clinical and Experimental Investigations. 2012; 3(1): 133 - 136.
Vancouver TOPTANCI İ,ÇOLAK H,KÖSEOĞLU S Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management. Journal of Clinical and Experimental Investigations. 2012; 3(1): 133 - 136.
IEEE TOPTANCI İ,ÇOLAK H,KÖSEOĞLU S "Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management." Journal of Clinical and Experimental Investigations, 3, ss.133 - 136, 2012.
ISNAD TOPTANCI, İSMET REZANİ vd. "Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management". Journal of Clinical and Experimental Investigations 3/1 (2012), 133-136.