Serhat KÖSEOĞLU, İsmet Rezani TOPTANCI, Hakan ÇOLAK

Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management

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.

Kleidokranial displazi: Etiyoloji, klinikoradyolojik görüntüleme ve tedavi

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.

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