Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management

Abstract

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. runt-related 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.

Keywords

• Cledio-cranial dysplasia, supernumerary teeth, diagnosis

Kleidokranial displazi: Etiyoloji, klinikoradyolojik görüntüleme ve tedavi

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 runt-related 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 Kelimeler

• Kledio-kranial displazi, artı dişler, tanı

Kaynakça

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