TOTBİD Dergisi

TOTBİD Dergisi

2016, Cilt 15, Sayı, 4     (Sayfalar: 303-310)

Orthopedic problems in mucopolysaccharidoses

Yılmaz Yıldız 1, H. Serap Sivri 1

1 Hacettepe Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Metabolizma Bilim Dalı, Ankara

DOI: 10.14292/totbid.dergisi.2016.37
Görüntüleme: 761
 - 
İndirme : 1839

Among the lysosomal storage diseases which arise due to inherited deficiencies of lysosomal enzymes, mucopolysaccharidoses are important for orthopedic surgeons due to their severe and vast skeletal manifestations. Short stature, cervical instability, stenosis of the craniocervical junction, kyphosis, carpal tunnel syndrome, trigger finger, hip dysplasia and genu valgum are the cardinal orthopedic problems in mucopolysaccharidoses. These problems usually require surgical interventions. Follow-up and treatment of patients with mucopolysaccharidosis must be managed by multidisciplinary teams which include orthopedic surgeons.

Anahtar Kelimeler : mucopolysaccharidoses; dysostoses multiplex; pediatrics