genetics

Background

Definition

 

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

 

Clinical

 

Foot

- pipe stem calf

- short wide foot

- small heel

- curved lateral border

Multiple Hereditary Exostosis

AKA

 

Diaphyseal Aclasis / Multiple Osteochondromas

 

Definition

 

Heritable skeletal dysplasia

 

Epidemiology

 

AD with variable penetrance (96%)

 

Malignant Transformation

 

Incidence of malignant transformation much higher 

- 10% overall

- 1 % / year

 

Chondrosarcoma (CS) > Osteosarcoma (OS)

 

Ewing Sarcoma

Principles

 

Treatment algorithm similar to OS

 

Overall prognosis similar to OS

- 70% long term survival

 

Definition

 

A malignant neoplasm composed of small round cells of uncertain histogenesis

 

Genetics

 

Recent data suggests it is of neuroepithelial derivation

- ? neuroectodermal cells