Basically there is proximal femoral deficiency, the proximal femur is partially absent and the entire limb is shortened.
· No exact known cause
· Injury to neural crest cells (embryonic cells of spinal cord and brain)
· Defect in proliferation and maturation of chondrocytes in proximal growth plate due to anorexia, ischemia, irradiation, bacterial, viral infection, toxins, hormones, mechanical injury, thermal injury, thalidomide (anticancer drugs). No genetic etiology. There is associated high incidence of other anomalies like fibula deficiency, Valgus feet, cleft palate, and club foot.
AITKEN classification of proximal femoral deficiency:
AITKEN divided it into the following four categories.
Femoral head is often absent
Femoral head is absent + proximal femur
Absent femoral head dysplastic acetabulum, tronchanter doesn’t develop.
Remember in the 1st two categories ossification may occur
· Prosthesis (head of femur)
- Treatment is delayed in child after 3 years.