Article
Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.
Genes - 15 Apr 2026
Taner Hasan Emir, Uludağ Alkaya Dilek, Kalyoncu Uçar Ayşe, Şeker Ali, Centel Tuncay, Yıldırım Timur, Güneş Nilay, Tüysüz Beyhan
Abstract excerpt
Background/Objectives: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of disorders characterized by a waddling gait, joint pain, and early-onset osteoarthritis. The aim of this study was to compare the genetic characteristics and long-term clinical follow-up findings of 22 patients with MED from 17 unrelated families. Methods: Molecular diagnosis was performed using...
Topics
- Humans
- Osteochondrodysplasias
- Child
- Female
- Sulfate Transporters
- Cartilage Oligomeric Matrix Protein
- Mutation
- Male
- Child, Preschool
- Collagen Type IX
- Phenotype