- See:
Metatrophic Dysplasia:
- Discussion:
- this disorder is frequently confused with
metatrophic dysplasia;
- characterized by disproportionate short trunk dwarfism, kyphoscliosis, and joint stiffness, and contractures of the hands;
- assessment of
atlantoaxial instability is essential;
- major orthopaedic deformity is limited joint motion and contractures;
- these patients are predisposed to early osteoarthritis;
- may be caused by a mutation in
type II collagen;
