İskelet Displazilerine Genel Bakış

Öz

İskelet displazileri kemik ve kıkırdak anormallikleri ile karakterize oldukça heterojen bir hastalık grubudur. Tek tek ele alındığında oldukça nadir olmakla birlikte bütüncül bakıldığında sıklığı yaklaşıl olarak 5000 doğumda 1’dir. Klinik heterojeniteye bağlı olarak hastalar farklı bölümlere farklı şikayetlerle başvurabilir ya da hastalar perinatal dönemde kaybedilebilir. Doğru tanı koymak, hastanın klinik takibinin uygun yapılmasını sağlar ve doğrulanmış moleküler tanı ile hastalığın sonraki nesillerde ortaya çıkmasının önüne geçilmiş olur. Ancak spesifik bir tanı koymak her zaman kolay değildir, ama multisistemik, kapsamlı ve basamaklı bir yaklaşım en azından spesifik bir grup içinde sınıflandırmayı sağlar. Bu yazıda iskelet displazili hastalara genel bir yaklaşım ve tanısal süreçte yardımcı olabilecek klinik ve radyolojik ipuçları kısaca özetlenmiştir.

Anahtar Kelimeler

• iskelet displazisi
• osteokondrodisplazi
• genetik hastalıklar
• boy kısalığı

Overview of Skeletal Dysplasias

Öz

Skeletal dysplasias are quite a heterogeneous group of disorders, characterized by bone and cartilage abnormalities. Although each of them is individually rare, collectively the birth incidence is approximately 1 in 5000 live births. Due to the clinical heterogeneity, patients with skeletal dysplasias can apply to different departments with many different complaints or even lethal in the perinatal period. The establishment of a precise diagnosis provide proper clinical management of the patient, and a confirmed molecular diagnosis can prevent the recurrence of the disorder in the next generations. However, determining a spesific diagnosis is not always easy, yet a multisystemic, comprehensive, and stepwise approach to the patients with skeletal dysplasias, at least allows clinicians to classify into a specific group. In this review, general approach to patients with skeletal dysplasias, and some of the clinical and radiographic clues helpful in the diagnostic process are briefly summarized.

Anahtar Kelimeler

• skeletal dysplasias
• osteochondrodysplasias
• genetic disorders
• short stature

Kaynakça

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