PROXIMAL FEMORAL FOCAL

DEFICIENCY
• A development defect of the proximal femur
recognizable at birth in which the femur is shorter
than normal and there is apparent discontinuity
between the femoral neck and shaft.
• PFFD consists of partial skeletal defect in the
proximal femur with a variably unstable hip joint,
shortening.
• Also can be referred to CFD (Congenital Femoral
Deficiency)
 Associated Anomalies
 Fibular hemimelia 70-80%
 Agenesis of cruciate ligaments of the Knee
 Clubfoot
 Congenital heart anomalies
 Spinal dysplasia (Dwarfism)
 Facial dysplasia
 ETIOLOGY
• The etiology of PFFD is not known exactly.
• Two Theories:
Sclerotome Subtraction Theory- “Injury to neural
crest cells that form the precursors to the peripheral
sensory nerves of L4 and L5 result in PFFD”.
Boden’s Theory- “PFFD may be aresultofa defect in
proliferation and maturation of chondrocytes in the
proximal growth plate (in this case is the proximal
femoral epiphysis)”.
• In majority of cases, it can be associated with;
Anoxia
Irradiation
Ischemia
Bacterial and Viral infection
Toxins and Hormones
Thalidomide
 Epidemiology
• According to literatures, PFFD is a rare case
even in developing countries like countries in
Africa.
• M Mehtar et al, 2016; reported the ratio to be
1:52000 births in South Africa.
• Felix U. Uduma et al, 2020; Reported 1.1-2
PFFD incidence in 100,000 live births in
Nigeria.
• Herring JA et al, 1998; Reported 1 PFFD case
per 50,000 population to 1 case per 200,000 in
USA.
 Pathophysiology
• Since the course of PFFD is uncertain, it is
difficult to explain the exact pathophysiology
of it.
• Defect in the primary ossification center.
 Clinical Features/Presentation
• The femur is shortened. Flexion of hip and knee
joints. Hip is held in abduction and external rotation.
Hip and knee flexion contractures may be present.
• Bulbous proximal thigh
• Proximal femur is partially absent.
• Stable or unstable hip joint.
• Position and Stability of the Knee and foot are
variable
• Entire limb is overall shortened, hence limb-length
discrepancies.
• Malrotation
• Inadequacy of masculature
• In some cases, vascular changes occurs.
• Ligamentous changes also occurs. Absence of
cruciate ligaments
• Valgus feet
• Spine differences
• Congenital heart defects
Is it possible to have a PFFD bilateral case?
 Diagnosis
• Children with proximal femoral focal
deficiency are diagnosed at birth when the
clinical presentation is obvious, or before birth
using prenatal imaging.
• E.g Ultrasound , Fetal MRI
 CLASSIFICATIONS

• Classification of PFFD can be complicated

since numerous classification schemes for
PFFD exist.
• There are two most commonly classifications
summarized as follows.
 Aitken’s four- part classification scheme
• Class A
 Least severe type
 Femoral head is present and attached to the shaft
 Acetabulum is well formed
 Femur is shortened and a coxa vara deformity is
present
• Class B
Femoral segment is short and usually has a
bulbous bony tuft.
Proximal end of femur usually positioned above
acetabulum is “adequate” on moderately
dysplastic and contains femoral head.
At maturity, no osseous connection is seen
between the femoral head and the shaft.
• Class C
 The acetabulum is severely dysplastic.
 The femoral head is absent.
 The shortened femoral segment has a tapered
proximal end
• Class D
 This is the most severe form , with absence of
the acetabulum and proximal femur.
 No proximal tuft is present.
 Gillespie & Torode classification
• This is clinically based treatment oriented
classification system.
• Group A
Candidates for limb lengthening.
Congenitally short femurs but clinically stable hips.
Indicating the over all limb length discrepancy is
20% or less.
• Group B
 Affected femur is 50% or less the length of
contra lateral
Femur.
 Foot at the level of knee or above it.
 Categorized as Aitken’s type A, B, C.
 Limb length discrepancy of approx. 40%.
 Best managed with prostheses after
surgical conversion (knee fusion,
rotationplasty etc.)
• Group C
Represent the same patients as Aitken’s class D.
They have subtotal absence of the femur.
Arthrodesis of the knee is not indicated.
Prosthetic treatment.
 Treatment and Management of PFFD

• Management of proximal femoral focal

deficiency (PFFD) requires a multidisciplinary
team, which includes the pediatric orthopedic
surgeon, prosthetists/, and physical therapists.
• No single treatment approach applies to all
cases. Each person with PFFD must be
assessed individually. 
• The most apparent functional deficit in PFFD is
the shortened limb. A less obvious one is the
difficulty with hip function and stability.
Because of the flexed and externally rotated
position of the femur, the knee remains
flexed, and the leg and foot are anterior to the
body axis.
• There is a generalized deficiency of the hip
musculature, even in patients with stable hips,
resulting in a significant lurch to shift the
center of gravity in the single-leg stance.
• Treatment is planned on the basis of the
following:
 Limb-length discrepancy.
 Presence of foot and other deformities.
 Adequacy and power of musculature .
 Proximal joint stability.
• While the timing of treatment varies from
child to child, in most cases it begins when the
child turns 3 years old, allowing time for early
bone to harden, and is completed when a
child has finished growing.
 Limb Lengthening Procedure
• Limb lengthening typically includes surgery to
cut the bone, and placement of an internal
rod or external fixator to slowly stretch the
limb as new bone forms.
• The procedure can take months and may need
to be repeated, depending on how fast the
child grows.
• To be eligible for limb lengthening, a child
must have:
 A femur with a predicted discrepancy at
skeletal maturity of usually less than 40
percent of the contra lateral femur.
 A stable hip, or one that can be made stable.
 Good function and stability in the knee, ankle
and foot.
 The Use of An Ortho-prosthesis
• An Ortho-prosthesis is prescribed If the limb
lengthening is not appropriate for the child.
• This is either because the leg-length
discrepancy is too great or because the child
may fail to tolerate the procedures.
 Quiz
• Discuss the following additional surgical
procedures.
 Knee arthrodesis
 Foot amputation
 Hip stabilization
 Iliofemoral arthrodesis
 Hip/pelvic osteotomy