Hatip AYDIN, Sarenur YILMAZ

İskelet Displazilerine Yaklaşım ve Tanımları ZKTB

İskelet displazileri; kemik ve kıkırdağın yapı, bü- yüme ya da morfolojik bozukluğundan kaynaklanan, büyük ve heterojen bir grup hastalıktır. Displaziler veya ilişkili durumlar 40 ana grupta 456 hastalıktan oluşmaktadır. Bu hastalıkların 316sı bir veya birkaç gen olmak üzere toplamda yakla- şık 226 gen ile ilişkilendirilmektedir. İskelet displazilerinde doğru yaklaşım, kemik anomalileri için kullanılan doğru isimlendirmenin bilinmesiyle olabilir. Bu derleme pratik tanıda yardım, yeni bozuklukların tanınmasını kolaylaş- tırmak ve iskelet bozukluklarını doğrudan araştırmayı sağlayabilir.

Approach to Skeletal Dysplasies and Definitions

Skeletal dysplasia is a large and heterogenous group disease, which originates from growth or morphologic disorder of bone and cartilage. Displasias and associated disorders are comprised of 450 diseases which are classified in 40 main groups. 316 of those diseases are associated with approximately 226 genes. The correct approach in skeletal dysplasias may be with known the correct nomenclature used for bone abnormalities. This review can provide practical diagnostic help, facilitate the recognition of new entities, and direct research in skeletal disorders.

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