Treatment of Children with Proximal Femoral Focal Deficiency

INGE B. SHAW, P.T.


In a group of 12 children treated for proximal femoral focal deficiency (PFFD) at Shriners Hospital in Winnipeg, three are bilaterally involved. Not only do these children have deficiencies at their hips, but two of them also present with bilateral paraxial fibular hemimelia. To add to the severity of the problem, all three have upper-limb deformities as well.

Although these three patients have similar deficiencies, each presents different problems to our training program. Because of the short upper limbs, balancing was more difficult to teach, and specially adapted walkers had to be used for a long time before unaided walking could be attempted. The three case histories are presented here to illustrate the treatment procedures which evolved in our management of these difficult cases.

Case 1

Paul is a 12-year-old boy born with quadrimembral phocomelia due to thalidomide. The clinical examination shortly after birth showed both hips contracted in flexion, abduction, and external rotation. His feet were in extreme dorsiflexion and inversion. His arms were short, and he had only four fingers on each hand. X-ray examination showed:

Lower Limbs (all conditions bilateral): femoral deficiency of Aitkens Type D, no acetabula or hip joints, dislocated knee and ankle joints, absence of fibulae, hypoplastic tibiae, deformed tarsal bones, feet markedly flexed, bones of forefeet relatively normal ( Fig. 1-A ).

Upper Limbs (all conditions bilateral): hypoplastic scapulae, short hypoplastic humeri, dislocated shoulder and wrist joints, absence of ulnae and thumbs, flexion deformity of hands, deformity of carpal bones, bones of four metacarpals and phalanges normal.

Paul was followed closely but was not fitted with prostheses until the age of six. The following prosthetic program was used as Paul developed:

  • Age 6-He was fitted with step-in prostheses having lateral cutouts, pylon rotators, in-evertors, and flat-bottomed footplates. He also was pro- vided a walker ( Fig. 1-B ).
  • Age 7--He was refitted with prostheses having SACH feet.
  • Age 8-He received an electric cart from the Manitoba Rehabilitation Hos- pital.
  • Age 9-He was refitted with prostheses having free knees but no rotators.
  • Age 10-Knees were replaced with automatic-locking polycentric knees (for easy sitting) ( Fig. 1-C and Fig. 1-D ).
  • Age 12-Patient retained prostheses of the type provided at age ten and uses them for social occasions. He was provided additional short, step-in prostheses equipped with SACH feet and no knee joints.

As Hall and Dietricht suggest in their article on treatment of children with bilateral PFFD, Paul was allowed to reach school age before he was fitted with prostheses. Because of his severe deformities, he had never attempted to walk, balance, or even stand on the bottoms of his feet. Even with his short first prostheses, Paul always felt as if he were on stilts. It took a lot of patience and perseverance from both patient and therapist to get Paul to balance unassisted and to master lateral and anterior-posterior weight transfer. Every time he was refitted and his limbs were lengthened, we started the whole procedure over again. His short arms seemed to be even shorter each time the legs were lengthened, and they added to Paul's imbalance.

It was only at age ten that Paul started to walk independently. To wean him off the walker we tried special modified crutches which were attached to a chest band. He could manage them, but they were awkward and did not really make him more independent than did the walker ( Fig. 1-E ).

By age 11 Paul was able to walk about 8.5m (28 ft.) unassisted, but only during his treatment period. At other times he still used the walker. His gait was a slow, stiff, and swivel type. Paul walked only at school or at the therapy department - never at home. At this time he was given a larger electric wheelchair, which he used at home. Paul's prostheses had to be lengthened frequently to keep him at the approximate height of his peers. Although he managed to walk by himself during his treatment periods, he still felt very unsteady with these long legs; and subsequently he asked for "stubbies." It was felt that this request was very reasonable, and consequently he was fitted with monolithic prostheses ( Fig. 1-F ) and uses them in school and at home. His long prostheses with the kneejoints are used only for social activities.

Thanks to the fitting with the monolithic prostheses Paul, for the first time in his life, has become independent of the walker. This independence, at 12 years of age, came rather late, partly as a result of the late initial fitting with prostheses and partly because the electric cart was readily available.

Case 2

Brennan is a 5 and 1/2-year-old boy with quadrimembral phocomelia. His first visit to the Juvenile Amputee Clinic occurred at the age of 13 months. X-ray examination showed ( Fig. 2-A and Fig. 2-B ):

  • Lower Limbs (all conditions bilateral): Short femora with deficiencies proximal one-third, absence of fibulae, slight anterior bowing of tibiae, four metatarsal rays.
  • Upper Limbs: Short right forearm with two terminal digits, a single forearm bone (probably ulna), one metacarpal ray, phalangeal bones in two digits. Short left arm with one digit, no forearm bone, single metacarpal and single phalanx.

At his first visit Brennan had just attained sitting balance, could pull himself up onto his plantar-flexed feet, and could stand by holding onto furniture. He had bilateral hip-flexion deformities of about 45 deg., and lower legs bowed with his feet in slight plantar flexion.

At first Brennan was given upper-limb prostheses, which he used for only three months. He used his own fingers (two digits right, one left) together very well, and his mother felt that the prostheses merely hindered his development. Brennan was fitted at the age of 27 months with phocomelic-type step-in prostheses. They provided ischial weight-bearing, lateral cut-outs, flat foot plates, ankle rotators, in-evertors, and minimum height ( Fig. 2-C and Fig. 2-D ).

Brennan's progress was very good. Because of his above-average intelligence he was easy to teach. He balanced well, walked with assistance forward and sideways, and managed to fall and to get up with the help of stools.

At the age of 32 months the footplates were replaced with SACH feet, and the legs were lengthened 6 cm (2 and 1/2 in.), but these changes created severe instability. Consequently the SACH feet were replaced with the footplates, and Brennan regained his stability. During the next few months the footplates were gradually cut down in size. At the age of 3 and 1/2 years SACH feet again were substituted for the footplates, and this time Brennan had no difficulty in adjusting to them. Also, the pylons were lengthened another 4 cm (1 and 1/2 in.). New step-in sockets were required at the age of almost four years. Ankle joints were added. At the age of 4 and 3/4 years Brennan's limbs were lengthened 5 cm (2 in.) in two stages.

Brennan has progressed in his walking very well. His balance is extremely good; his gait is a swivel type of movement but is very steady. lie can fall anywhere and catch himself with his short upper limbs, and he can get up from the same spot without any help. He can also manage to walk up and down a low broad step.

During the first two years of training Brennan attended physiotherapy daily for six months, then three times a week, and later twice weekly. In addition, he wore his legs at least two hours daily at home. When he started at the preschool center for the handicapped he continued his treatments there and also increased the amount of O.T. and A.D.L. training. Brennan is in Grade 1 now. He is wearing the prostheses all day in school for the handicapped and a certain time during the evening at home.

Brennan probably will continue to require some walking training each time his limbs are lengthened. Otherwise, most of the training will emphasize A.D.L. (toileting, dressing) and use of the electric typewriter.

Case 3

Cheri is a two-year-old girl with bilateral proximal femoral focal deficiency and terminal paraxial hemimelia ulna (R). She first was seen at our Juvenile Amputee Clinic when she was seven months old. She presented with short, flexed, and abducted femurs, which were telescoping, and a short right upper limb with only one digit. X-ray examination showed ( Fig. 3-A and Fig. 3-B ):

  • Lower Limbs: Bilateral P.F.F.D. Aitken's type D; normal knee joints, lower legs, and feet.
  • Upper Limbs: Short right humerus fused with ulna and radius; single digital ray. Normal left limb except for fusion of 4th and 5th metacarpals; all phalanges of little finger hypoplastic.

Cheri was seen again for follow-up at ten months of age. She had no sitting balance then, but she rolled and attempted crawling. She also started moving the single digit on her right arm. The clinic decided:

  1. Not to fit her upper limb unless it was requested for cosmesis.
  2. To fit both lower limbs at age two or three.
  3. To review Cheri's case at the clinic every six months.

At age 16 months Cheri had attained sitting balance and could pull herself up to standing. The clinic team decided to attempt an early fitting with prostheses for the lower limbs. Cheri was 18 months old when she was fitted initially with phocomelic step-in type prostheses which provided ischial weight-bearing and anterior cut-outs for the feet. The initial training started with standing and balancing in the prostheses and was gradually increased to standing by two or three chairs or tables of her size, and Cheri was bribed and encouraged to pass such items as toys and blocks from one chair to another. Training was very difficult because Cheri did not want to cooperate and because she refused to use her short right finger to hold on or to transfer toys. She absolutely ignored the right side.

It was noticed also that occasionally Cheri suddenly started crying when she saw herself in a mirror. It may have frightened her to see her own feet on top of the artificial ones. A different approach had to be found. At the next treatment session the stretchy sleepers which she usually wore were pulled right down over her own feet so that only the shoes would show, and that made the difference! From that day she responded better to the treatment. She started walking with a walker, hanging on and pushing even with her right upper limb. She also learned to fall, catching herself with the outstretched uneven upper limbs. Teaching her to get up was very difficult, and she still has not mastered this activity completely. The upper-limb-length discrepancy makes it difficult for her. If she can get away with it she will use only her left side. In a way, Cheri is more handicapped with her upper limbs than Brennan is. He can use both upper limbs very well.

Cheri also finds it hard to walk sideways by a wall. She cannot hold on with both hands because one arm is long, the other one short. With a wall on her left she does all right. She walks forward, holding on only with her left hand. If the wall is on her right side, she refuses to walk.

Cheri is two years old now, and she is able to take six to eight steps independently. She attends therapy twice weekly and uses her prostheses at home two hours in the morning and two hours in the afternoon. For the past four months she has been walking with a waddling type of gait on her own feet when she is not wearing her prostheses ( Fig. 3-A and Fig. 3-B ).

Conclusion

Prosthetic fitting and training for children with proximal femoral focal deficiency should be started as soon as they attempt to pull themselves up to standing or as soon as they have sitting balance if their feet are too deformed to supply a sufficient weight-bearing surface for standing. Prior to this time they should be followed closely with physiotherapy during their development.

Descriptors: Prosthetics, limb, general; limb, general; congenital deficiencies, multiple; hemimelia; phocomelia; proximal femoral focal deficiency; walking aids; treatment and management, general; training of patients; pediatrics.

Shriners Hospital for Crippled Children, Winnipeg, Manitoba, Canada

References:
1. Hall, John E., and Dietrich Bochman, The surgical and prosthetic management of PFFD, in George T. Aitken, ed., A symposium-Proximal Femoral Focal Deficiency-A Congenital Anomaly. N.A.S. Publication 1734, June 13, 1968.