Late Referred Proximal Focal Deficiency:

A Comprehensive Rehabilitation Management - A Case Report

Juwita Arum M

, Damayanti Tinduh

, I Putu Alit Pawana

, SM Mei Wulan

, Keiichi Tsukishiro

Department of Physical Medicine and Rehabilitation, Dr. Soetomo Academic Medical Center Hospital, Universitas

Airlangga, Surabaya, Indonesia

Department of Assistive Rehabilitation, Faculty of Rehabilitation of Hiroshima International University,

Hiroshima, Japan

Keywords: PFFD, Proximal Focal Femoral Deficiency, Congenital limb deficiency, Phocomelia

Abstract: A child with Proximal Focal Femoral Deficiency (PFFD) would suffer a gait problem due to leg

deformities. PFFD is a rare congenital anomaly ranging from one case per 50,000 population to one case

per 200,000 population. This is a case report of a 5 years old girl with isolated left PFFD Aitken D. She

met the orthopedic at the age of 6 months and asked to come back at 5 years. She has left knee contracture

and limited involved hip range of motion also hypermobility joint in the uninvolved leg. The patient

walking by kneeling to compensate for the leg length discrepancy (LLD) and has an inadequate function

of the uninvolved leg. The rehabilitation program consists of a home-based strengthening and stretching

exercise program, gait training, balance exercise, elastic tape application, and an adaptive prosthesis. At

the end of 2 months of comprehensive rehabilitation management, the balance has improved and the

patient was able to stand at the same level as her friends and walking with an adaptive prosthesis with a

better gait pattern.

1 INTRODUCTION

Proximal focal femoral deficiency (PFFD) is a

congenital anomaly that involves the pelvis and

proximal femur with widely variable clinical

manifestations, from mild femoral shortening and

hypoplasia to the absence of any functional femur

and acetabulum aplasia (Dillon et al., 2005). The

more severe presentations would have progressive

subluxation to dislocation of the femur (Alexander

et al, 2015). Aitken in 1969 made a simple

classification for PFFD which is widely used

worldwide. This divides PFFD into four classes

based on the radiographic appearance and the

anatomic relationship between the acetabulum and

the proximal end of the femur (Lasanianos and

Kanakaris, 2015). The child may need a socket at a

relatively young age to capture the limb and

provide maximum stability. Surgery is not the first

option for PFFD treatment, it’s indicated to made

more acceptable stump, provide hip stability and

improving gait pattern when wearing a prosthesis

(Alexander et al, 2015). The fusion of the femoral

remnant to the tibial remnant would effectively

create a residual limb that functions and has

prosthetic needs of a knee disarticulation patient. A

Van Ness rotationplasty is another surgical

procedure frequently used in this case (Ackman et

al., 2013).

2 CASE REPORT

A 5 years old girl came to our hospital in the last

week of July 2019 with PFFD Aitken D. She lived

in a small village in Pasuruan district, about 90 km

from Surabaya. Her father was a carpenter, working

on a local businessman, while her mother was an

honorary clerk at the restaurant near the house. She

started kindergarten this semester. She is the only

child, spontaneous delivery at term by a midwife,

with 3700 grams birth weight and spontaneously

crying. No clear cause at prenatal history. At 6

months old she has met the orthopedic, got X-Rays

and come back at the age of 5 or 6 years old. Her

development was similar to another child, she eats

130

M, J., Tinduh, D., Pawana, I., Wulan, S. and Tsukishiro, K.

Late Referred Proximal Focal Deﬁciency: A Comprehensive Rehabilitation Management - A Case Report.

DOI: 10.5220/0009065001300134

In Proceedings of the 11th National Congress and the 18th Annual Scientiﬁc Meeting of Indonesian Physical Medicine and Rehabilitation Association (KONAS XI and PIT XVIII PERDOSRI

2019), pages 130-134

ISBN: 978-989-758-409-1

the same food as the family, communicate verbally,

but shy with strangers. She could write a letter. No

complaint on pee nor defecation. Based on her

mother, the patient could walk as far as about 300

m to play to the neighbors. The girl wants to stand

upright and joint the carnival to celebrating the

independent day.

On examination, we found the left thigh was

much shorter than the right one, whereas the size of

the tibia and foot at both sides were the same (Fig

1). The body weight 16 kg with body length 102

cm, and head circumference 102 cm. She had

limitations range of movement (ROM) on her left

hip, the left knee ROM was 60 – 135 with hard

end feel and. The manual muscle test (MMT) of left

hip flexor and extensor were 2. She can’t do one leg

stands (OLS) with open eyes on her good leg. The

girl walked by kneeling her right knee to

compensate for the difference in leg length. When in

the house, she walks with kneeling the right knee,

while on the ground, she walks using both of her

foot so the right knee at her chest level. She used

pelvic rotation to move forward to compensate for

the weakness of the hip flexors. There were no

anomalies were found on the skeletal, cardiac,

gastrointestinal, genitourinary, or nervous systems

were observed. No trauma she got, no pain, no

swollen or redness on her left leg. There were no

family members has the same deformity as hers. For

the time being, the parent not considered surgery as

the acceptable treatment. The radiograph in

standing position, show there were no femoral head

nor acetabulum on the left side. The femoral

remnant hanging in abduction and flexion position.

(Figure 1C).

In the first week of rehabilitation program, our

main goal was to increase her balance. Due to the

socioeconomic condition, she was given a home-

based exercise program. The program would be

evaluated every 2 weeks. The progress sent weekly

by the mother via Whatsapp®. We taught her

mother to stretch the hip abductor, flexor and

internal rotator, bridging exercise, sit to stand and

how to walking with the walker, OLS practice and

strengthening lower extremity. Continuous

counseling also was given both to the patient and the

parent to help them to accept the girl’s condition and

boost the girl’s confidence. The adaptive prosthesis

was made with specification: ischial containment

adaptive socket with an open front and footrest, knee

joint, shank, sach foot (Figure 2A).

Two weeks later, the girl already could do OLS

less than a second and could walk with a walker. We

found the Lachman test, valgus and varus stress test

on the right knee were positive. Anterior drawer test

in both ankles was also positive. The hypermobility

joints were not helped her balance. We gave her

elastic tape on her right knee and ankle to provide

more stability. Soon after elastic tape application,

the girl could do OLS for four seconds. In the fourth

Figure 1: Clinical appearance patient. (A) The front view, the left ankle at the right knee level. The girl can not stand

without holding to something. (B) Patient position when walking indoor, the right knee touching the floor with her lower

leg bending backward and the left ankle in tip toeing. (C) Radiograph image. The left acetabulum not formed and absence

of femoral head. The size of the left femoral shaft is less than 50% of the right femur. Note the linear blurry image, which

caused by patient’s movement due to poor balance.

Late Referred Proximal Focal Deﬁciency: A Comprehensive Rehabilitation Management - A Case Report

131

week, the girl could do OLS for 2 seconds without

elastic tape, and six seconds with elastic tape. We

give elastic tape once every 2 weeks which lasts for

5 days on the girl.

The girl got adapted prosthesis at the sixth week

of our rehabilitation program, but she rejected her

prosthesis. She cried and would not looked into it.

We explained to the parents and showed the girl

some videos with a girl wearing lower limb

prostheses. We monitored as the girl slowly accept

her prosthesis. She had difficulty to control the knee

unit, so we suggest the parent to lock the knee

momentarily. The girl’s response was good. She felt

more stable with the knee locked in the extended

position. The next week, she could walk with the

prostheses by handheld to the parents. At the eighth

week, she already could walk some steps with her

prosthesis independently, with fast steps and limping

gait. There were no pain nor discomfort during the

use of prosthesis and no

redness nor blisters on the

skin that contact with the socket. After given some

correction on her gait and motor education, she

could walk further (about 5m) independently (Fig 2

B,C). The pelvic rotation is reduced. The balance

was significantly improved, she could do OLS for 7

seconds without elastic tape. However, the girl’s still

couldn’t do hoping and sit to stand without hold. She

still has to hold on when walking long distance. The

strengthening exercise continued at home and the

gait exercise would be done every 2 weeks.

3 DISCUSSION

PFFD is an anomaly that results from the

development failure of the subtrochanteric portion of

the femoral shaft. It’s a rare skeletal disorder ranging

from one case per 50,000 population to one case per

200,000 population (Lasanianos and Kanakaris,

2015). It could be diagnosed early at 20 weeks

gestational age using ultrasound with characteristic

the absent of femoral head and shortening femoral

shaft (D’Ambrosio et al., 2016). Early diagnosed

PFFD would help the parent to accept their child’s

condition. Although the etiology of PFFD is

uncertain, the common etiologies of the short femur

should be excluded, such as aneuploidy (especially,

trisomy 21), poor diabetic control, exposure to drugs

(thalidomide), viral infections, radiation, focal

ischemia between the 4

and 8

week of gestation

(Lin et al., 2013).

Aitken in 1969 has described a classification that

has been widely used. The radiographic findings are

ranked from a benign form (A) to a severe form (D)

according to the extent of the femoral deficiency.

Type A has a small area of deficient femur below

the femoral head. In type B this same segment is

absent. In type C the femoral head is absent and the

acetabulum deformed. Finally in type D both the

acetabulum and femoral head are absent (Lasanianos

and Kanakaris, 2015).

Figure 2. (A) The adaptive prosthesis with adaptive front open ischial containment socket and foot rest. (B) The girl stand

in her good leg. (C) The girl and her adaptive prosthesis anterior view. (D) Lateral view of the girl



C D

KONAS XI and PIT XVIII PERDOSRI 2019 - The 11th National Congress and The 18th Annual Scientiﬁc Meeting of Indonesian Physical

Medicine and Rehabilitation Association

132

Each child with PFFD must be assessed

individually since no single treatment approach

applies to all cases. Limb lengthening is indicated in

cases which predicted discrepancies at maturity not

exceeding 20 cm, in hips that are or can become

stable and when a relative good knee, ankle, and foot

is present. In the case of predicted discrepancies

greater than 20 cm or if other reasons do not render a

child suitable for limb lengthening, prostheses

should be considered Treatment options could be

generalized based on Aitken classification which

vary from shoe lift, prosthesis, and both surgery and

prosthesis. In classes C and D a stable hip joint

cannot be obtained thus a fusion of the hip and,

possibly, the knee joint is necessary (Lasanianos,

Kanakaris and Giannoudis, 2015). The fusion of the

femoral remnant to the tibial remnant, would

effectively create a residual limb that functions and

has prosthetic needs of a knee disarticulation patient.

A Van Ness rotationplasty is another surgical

procedure frequently used in this case (Ackman et

al., 2013). A Van Nesh rotationplasty indicated

when the ankle level of the affected side is at the

same with the knee level of the unaffected side.

When the femoral remnant is less than 50%, it

would made the ankle fell above the knee, Syme

amputation is the recommended procedure to

provide a good stump. However, surgery not the first

option in this case. Since the girl’s parent objection

for the surgery and the girl already could walk by

herself, we decide prosthesis would be the best

treatment choice for the time being.

Weakness and contracture of the left limb of the

girl due to lack of use. She walks in an abnormal

position for her first 4 years. As the prosthesis use

needs several qualifications, exercise is also the

main treatment in this case. Side lying in the left side

would stretch the hip abductor, bridging would

target hip extensor, and sit to stand exercise would

activate the quadriceps muscle and increased knee

stability (Da Costa, Savelsbergh and Rocha, 2010).

The child with lower limb deficiency should be

fitted with a prosthesis when he or she is ready to

pull up to a standing position (Abudu et al., 2006).

This usually occurs between 9 and 10 months of age.

The goals in fitting a prosthesis at this early age are

to allow for normal two-legged standing,

proprioceptive input, provide a better means for

reciprocating gait development, and provide a

normal appearance (Alexander et al, 2015). The

prosthesis should be simple in design, allow growth

adjustment, suspend securely, and preferably

lightweight. It is very important to establish a

standing position for the girl as soon as possible. It

would provide better proprioceptive which is

important for walking endgram (Barra and

Pérennou, 2013). The gait pattern maturity around

the age of 7-8 years old. As the girl is now 5 years

old, it is important to improve the child’s posture

and walking pattern at this time.

The girl has hypermobility syndrome, which

worsening her balance. We put elastic tape on her

right knee and ankle so it would help to stabilize the

leg. Elastic taping could give the proprioceptive

stimuli to establish the joints (Chinn et al., 2014).On

the second visit, elastic tape application was

significantly improved OLS time, from 1 second to 4

seconds after elastic tape application.

The home-based exercise is more often used in

elderly patients with frailty (Clegg et al., 2014). In

Figure 3: The timeline of the patient’s history. OLS: one leg stand. AROM: active range of motion

Late Referred Proximal Focal Deﬁciency: A Comprehensive Rehabilitation Management - A Case Report

133

this case, due to the socioeconomic conditions of the

patient and the location of the house which is quite

far from our hospital, we thought home-based

exercise program is the best option for the patient. In

this case, the result of home-based exercise mostly

depends on parent’s contribution. Adequate

education must be given. Prosthesis rejection also

became some issue in our rehabilitation program. It

took a week for the girl to accept her prosthesis and

started the gait exercise using a prosthesis. Postema

et al recommended the age of the first fitting for

upper-limb prosthesis, not more than 25 months.

Fitting after this age seems to be related to higher

rejection rates.The other systematic review by Meurs

et al said that fitting age of prosthesis depends on

clinical experience rather than evidence-based

(Meurs et al., 2006). The girl had difficulty to

control the knee unit given in the adaptive

prosthesis. The locked knee in full extension helped

the girl to walk better. The knee unit in children’s

first prosthesis rather difficult to control (Cummings,

2000). As the girl’s control of her prosthesis getting

better, the knee unit could be used. The myoelectric

prosthesis would be the best choice for this

condition (Tsukishiro, 2003). However, it would be

cost too much for the family.

For the future, the girl still needs to be routinely

evaluated. We continued to monitor for any redness

or blisters due to the use of prostheses. As the girl

continues to grow, the prosthesis would need several

times to adjust. The exercise should be done

regularly. It is important to improve ROM and

strength of both of the legs. The continuous

counseling for both the child and the parents would

be need.

4 CONCLUSIONS

It is important to know the characteristic of PFFD

and the treatment option we could offer to the

patient. Treatment of PFFD not as simple as to

choose between either prosthesis or surgery. We

need a comprehensive rehabilitation program that is

tailored as the patients need. We suggest the patients

with PFFD came to a physiatrist soon after birth.

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Medicine and Rehabilitation Association

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