480 - Management of severe congenital deficiency of the femur: Has much
changed in the 21st Century?
George Cross1, Ahmed Elsheikh1, Jonathan Wright1, Deborah Eastwood1, Imad
Sedki2, Peter Calder1
1Royal National Orthopaedic Hospital, Limb Reconstruction Unit, London, United
Kingdom; 2Royal National Orthopaedic Hospital, Limb Rehabilitation Unit, London,
Background: Congenital deficiency of the femur remains uncommon, with a wide
spectrum of presentation from simple hypoplasia to complete absence. In cases
of severe deformity and leg length discrepancy, prosthetic use remains the
preferred management strategy. The aim of this study was to assess this group’s
functional outcome and evaluate the influence of surgical intervention.
Methods: A retrospective review of the limb rehabilitation database identified
118 patients with congenital limb deficiency. 76 were excluded with no femoral
deficiency, 24 had femoral shortening associated with another condition, leaving
18 patients with Proximal Femoral Focal Deficiency (PFFD) as the study group.
Prosthetic mobility and functional scores were recorded. Quality of life was
assessed using the PedsQL questionnaire. Outcome comparison was undertaken
looking at age groups and those who had/had not undergone surgical
Results: There were 9 male and 9 females, with 11 children (mean age 9yrs; range
5-16yrs) and 7 adults (mean age 41yrs; range 23-63yrs). Better prosthetic scores
were recorded in the paediatric group, as well as the locomotor capability index.
The children also recorded better PedsQL scores in comparison to the adult
group. Eight of 11 children and two adults had undergone surgery: Super-Hip
procedure (5), knee fusion/Syme disarticulation (1), hip reduction/femoral
osteotomy (2, including knee disarticulation in 1) and femoral lengthening (1),
with resulting better prosthetic use but no difference in functional scores when
compared to the non-operated group.
Discussion: The management strategy in severe PFFD is to optimise prosthetic
fitting and limb function. Hip reconstruction appears to improve prosthetic
scores. Overall scores appear to decline into adulthood, but not significantly,
bringing added complexity when recommending treatment in this rare condition.
Limited numbers, with a short follow-up following surgical intervention, prevents
clear guidance on the benefit of surgery.