Chondrodystrophıa Calcıfıcans Congeni ta “Risomelik Tip”

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Journal of Experimental and Clinical Medicine
Volume:4 Issue:1
Chondrodystrophıa Calcıfıcans Congeni ta “Risomelik Tip”

Chondrodystrophıa Calcıfıcans Congeni ta “Risomelik Tip”

Authors : B DİREN, İ YAZICIOĞLU, , B PİŞKİN

Pages : 0-0

Doi:10.5835/jecm.v4i1.501

View : 42 | Download : 10

Publication Date : 2009-12-30

Article Type : Other Papers

Abstract :SUMMARY Chondrodystrophia calcificans congenita `rhizomelic type` is a connective tissue disorder and inherited as an autosomal recessive trait. It`s charac¬terized by stipplinb epiphyses, symmetric shortening of the proximal segments of the extremities, flat face with mongloid features, ichthyosiform skin changes and multiple joint contractures. In this article, chondrodystrophia calcificans congenita `rhizomelic type` was diagnosed in a one-month year old boy and presented with clinical and radiological features and also relevant literature has been reviewed. Özet Chondrodystrophia calcificans congenita `risomelik tip` otosomal resesiv genetik geçiş gösteren bir konnektif doku hastalığıdır. Hastalığın karak¬teristik bulguları, epifiziel noktalanma, ekstremitelerin özellikle proksimal segmentlerinin kısalığı, mongloid özelliklerle birlikte görülen yassı yüz görünümü, ihtiyosiform deri değişiklikleri ve multipl eklem kontraktürleridir. Bu makalede, 1 aylık bir erkek çocukta tanımlanan chondrodystrophia calcificans congenita “risomelik tip`, klinik ve radyolojik özellikleri ile takdim edilmiş ve konu ile ilgili literatür gözden geçirilmiştir.
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