Proximal Femoral Focal Deficiency

Question 1

What is involved in the spectrum of disease?

Answer 1

• absent hip
• femoral neck pseudoarthrosis
• absent femur
• shortened femur

Question 2

Gene implicated in PFFD?

Answer 2

sonic hedgehog, affecting the apical ectodermal ridge

Question 3

Associated orthopaedic conditions?

Answer 3

• fibular hemimelia
• ACL deficiency
• coxa vara
• knee contractures

Question 4

Aitken classification

Answer 4

A= head present, normal tab
B = head present, dysplasic tab
C = head absent, dysplastic tab
D = absent head AND tab

Question 5

Physical manifestations:

Answer 5

• %age of shortening remains constant with growth

- short thigh that is flexed, abducted, and externally rotated

Question 6

Indications for knee arthrodesis with foot ablation:

Answer 6

• ipsilateral foot is proximal to the level of the knee
• prosthetic knee won’t be below the level of contralateral knee at maturity
• need for improved prosthetic fit

Question 7

Indication for Van Ness Rotationplasty:

Answer 7

ipsilateral foot is at the level of the contralateral knee

• ankle with 60% motion
• absent femoral head (Aitken C & D)