Congenital Talipes Equinovarus
Congenital abnormality of the foot characterised by
- hindfoot equinus & varus
- forefoot Adduction
- midfoot Supination
Latin: talus - ankle / pes - foot / equinus - horse like
Foot
- pipe stem calf
- short wide foot
- small heel
- curved lateral border
Diaphyseal Aclasis / Multiple Osteochondromas
Heritable skeletal dysplasia
AD with variable penetrance (96%)
Incidence of malignant transformation much higher
- 10% overall
- 1 % / year
Chondrosarcoma (CS) > Osteosarcoma (OS)
Abnormality of type 1 collagen
- amino acid substitution of glycine with another amino acid
- prevents triple helix formation
Many many deformities described
- some 286 mutations of Type 1 collagen described
There are actually now 7
Type I
- mild
- AD
- blue sclera
Treatment algorithm similar to OS
Overall prognosis similar to OS
- 70% long term survival
A malignant neoplasm composed of small round cells of uncertain histogenesis
Recent data suggests it is of neuroepithelial derivation
- ? neuroectodermal cells