Article
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.
American journal of medical genetics. Part A - 1 Apr 2025
Daşar Tuğba, Ürel Demir Gizem, İmren Gözde, Utine Gülen Eda, Yilmaz Güney, Şimşek Kiper Pelin Özlem
Abstract excerpt
Multiple epiphyseal dysplasia (MED) is a heterogeneous group of chondrodysplasia characterized by arthralgia, early onset osteoarthropathy, and the radiographic findings of small, flat, and irregular-shaped epiphyses. Some patients with MED have mild short stature as well. MED is genetically heterogeneous caused by pathogenic variants in COMP, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2. In 2017, pathogenic...
Topics
- Humans
- Osteochondrodysplasias
- Male
- Female
- Dwarfism
- Child
- Pedigree
- Child, Preschool
- Adolescent
- Mutation
- Phenotype
- Radiography
- Genetic Predisposition to Disease
- Joint Instability
- Ossification, Heterotopic
- Polydactyly
- Craniofacial Abnormalities