From: Inflammatory arthritis complicating galactosialidosis: a case report
Musculoskeletal involvement | |
Coarse facial features | |
Short stature | |
Vertebral deformity | |
- lumbar kyphosis based on L2 hypoplasia | |
Joint dysplasia | |
- hips, shoulders, knees and wrists | |
Contractures | |
- knees, elbows, wrists and the 2nd, 3rd and 4th proximal interphalangeal joints | |
Visceral involvement | |
Cardiac pathology | |
- mitral valve regurgitation (mild) and aortic valve regurgitation (mild) | |
Eye involvement | |
Macular cherry-red-spots |