Piknodizostozisin klinik ve radyografik özellikleri: Olgu raporu

Piknodizostozis artmış kemik yoğunluğu, kısa boy, distal falanksların osteolizi, mandibular gonial açıda artma ve kemik kırılganlığı ile karakterize otozomal resesif bir bozukluktur. 1q21 kromozomu üzerindeki katepsin K (CTSK) proteinini kodlayan genin mutasyonu sonucu oluşur. Piknodizostozis ilk kez Maroteaux ve Lamy tarafından 1962'de tanımlanmıştır. Bir milyon kişide 1 ila 1.7 sıklıkta görülür. 16 yaşında erkek hasta dişlerindeki çapraşıklık nedeniyle kliniğimize başvurdu. Klinik muayenede kısa boy, hipertelorizm, gaga şeklinde burun, frontal şişlik, mandibular retrognati, el distal falankslarında displazi, derinleşmiş damak kubbesi ve sınıf III molar ilişki görüldü. Radyografik muayenede ise gonial açıda artma, kondil boynunda uzama ve kemik dansitesinde artış görüldü. Bu makalenin amacı hastalığın karakteristik orofasiyal bulgularını taşıyan bir piknodizostozis vakasını bildirmektir.

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