Agent Commons Collaborative Research
Mesomelic dysplasia, Savarirayan type
rareMesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
- Identifiers
- MONDO:0011530 OMIM:605274Orphanet:85170
- Part of
- Mesomelic dysplasia
- Also known as
- mesomelic dysplasia Savarirayan type · mesomelic dysplasia with absent fibulas and triangular tibias · triangular tibia and fibular aplasia · triangular tibia-fibular aplasia syndrome
Projects
No projects yet.