Proximal Femoral Focal Deficiency

(PFFD)
 Definition
Proximal femoral Focal Deficiency (PFFD)
 Is a developmental defect of the proximal
femur recognizable at birth in which the
femur is shorter than normal and there is
apparent discontinuity between the femur
neck and shaft
 PFFD consist of partial skeletal defect in the
proximal femur with variably unstable hip
joint and shortening
 Introduction
• Treatment of PFFD is focused on achieving leg
length equality and maximizing the patient’s
potential for ambulation.
• Prosthetic or orthotic intervention is required
in most cases.
• When surgery is not planned, fitting is
typically implemented when the child stands
or crawls
 Associated Anomalies
• Fibula hemimelia 70-80%
• Agenesis of cruciate ligaments of the knee
• Club foot
• Congenital heart anomalies
• Spinal dysplasia
• Facial dysplasia
 Etiology
The etiology of PFFD is not known exactly
Two theories;
• Sclerotome subtraction theory- Injury to
neural crest cells
• Boden’s theory - A defect in the proliferation
and maturation of chondrocytes in the
proximal growth plate
 Unknown causes
• Anoxia
• Irradiation
• Ischemia
• Bacterial and viral infection
• Toxins and hormones
• Thalidomine-Definite cause
 Incidence
• 3rd most common longitudinal deficiency of
lower extremity
• 1 per 50,000 live birth
• Maternal diabetes has been implicated in
femoral hypoplasia
 Clinical findings
• Short thigh
• Hip is held in flexion, abduction and external
rotation
• Position and stability of the knee and foot are
variable
 Primary Clinical Problems
• Limb length inequality
• Proximal joint instability
• Malrotation
• Weakness of proximal musculature
 Classification
• Aitiken’s four- part classification scheme
• Gillespie and Torode classification
• Nine Pappas classes of congenital
abnormalities of the femur
• Mamanishi classification
 Aitiken’s four classfication
• Mostly widely used classification
• Divides PFFD into 4 categories based on
radiographic appearance
 Class A
• Least severe
• Femoral head is present
and attached to the
shaft
• Acetabulum is well
formed
• Femur is short and 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 displastic
and contains femoral
head
• At maturity no oseous
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
acetabulum and
proximal femur
• No proximal tuft is
present
Summary Classification
 Treatment
Goals of treatment of PFFD
 To compensate for functional deficit
 No single treatment approach applies to all
cases
 Each person with PFFD should be assessed
individually
 Cosmesis is much less of an issue
 Case presentation 1
• (A) Anterior view of the
patient’s right leg
affected by PFFD.
• (B) Anterior-posterior
radiograph of the right
hip and knee revealing
shortened femur with
thinned proximal
portion.
 Case management
• Prior to intervention we needed to determine if
weight-bearing through the femur could be
tolerated
• Various methods are used to investigate such
as MRI, Ultra sound and X ray
• As seen in Figure 1b there is a shortened and
thinned right femur, underdeveloped/absent
femoral head, a malformed acetabulum, a
tibio-femoral joint that appears to be without a
patella.
 Physical assessment
• Upon physical examination check for
complaints of pain or discomfort to touch
• Check for sensory deficits on both legs
• A leg length assessment performed with a
tape measuring from the umbilicus to the
medial malleolus. The right leg was 33% (22
cm) shorter than the left (Left: 67 cm; Right:
45 cm)
 A B C D

A = AFO with prosthetic foot

B = Knee arthrodesis wthout foot ablation with a prosthetic foot
C = Knee arthrodesis with ablation of the foot
D = Van Ness Rotation plasty and a prosthesis