Herediter çok odaklı egzositozis Hereditary multiple exostoses

Abstract

Keywords

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Herediter çok odaklı egzositozis

Abstract

Herediter çok odaklı egzositozis (HME) poliostotik perifizyal osteokondrom oluşumuna yol açan otozomal dominant kalıtılan bir hastalıktır. Osteokondromlar öncelikli olarak alt ekstremite (kalça, diz, bacak), humerus ve ön kolda görülür. Bu osteokondromlar büyümede geriliğe, ağrılı lokal semptomlara, damar, tendon, sinir basılarına, eklem hareketlerinde kısıtlılığa ve nörolojik bulgulara neden olabilir. Burada HME tanılı bir olgu sunulmuş ve literatür eşliğinde tartışılmıştır.

Keywords

• Herediter çok odaklı egzositoz, osteokondrom, boy kısalığı, çocuk

References

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