The Management of Bilateral Proximal Femoral Phoeomelia with Associated Idiopathic Scoliosis
W. G. Phippen, M.D. James M. Hunter, M.D. A. R. Barak At, M.D.
During the past four years, our amputee clinic has grappled with the problem of treating a girl with bilateral proximal femoral phoeomelia (Fig. 1 and 2 ) and an associated idiopathic scoliosis (Fig. 3 and 4 ). Less serious anomalies also were detected; dextrocardia (Fig. 5 ), pectus excavatum, pilonidal cysts, diastasis recti, adducto-varus deformity of the left foot, and plano-valgus of the right foot.
The major deformity in this case can be classified as bilateral intercalary transverse proximal phoeomelia of the lower limbs.1 Defects sometimes associated with this deficiency, such as fibular hemimelia or accessory upper-limb problems were absent in this case. The scoliotic deformity markedly aggravated the problems of management, as will be explained later.
Scoliosis has not been reported in conjunction with proximal phocomelias of the lower limbs although Epps2 has discussed the management of upper-limb deficiencies complicated by scoliosis. The incidence of scoliosis in the overall group of limb-deficient children has been cited3 as being 1.2 per cent. Only 1.9 per cent of children with congenital limb defects have four or more associated anomalies. This case had seven.
J. C, a white female, now 11 years and 10 months of age, was first seen in the clinic at the age of 7 years and 3 months. She was the tenth child, and the product of an uncomplicated pregnancy. The mother was not diabetic, did not suffer any known illnesses during her pregnancy, and had not taken any medication during the entire period of gestation. There were no hereditary anomalies or inborn diseases on either paternal or maternal side.
Physical examination revealed that her true height was 29 inches. She had an obvious dorsal scoliosis with the convexity to the left (Fig. 5 ). At the time of the initial examination the curve was flexible and the pelvic obliquity was quite noticeable (Fig. 4 ). Both lower limbs were markedly shortened, the left more so than the right. The limbs had a "wind-swept" appearance, the right lower limb being externally rotated while the left was internally rotated. The rib cage demonstrated a pectus excavatum deformity and a palpable as well as audible apical impulse was noted in the right fifth intercostal space. A longitudinal palpable defect in the anterior abdominal wall was apparent on active forward flexion of the spine; and examination of the lower sacral area revealed two small sinuses with no drainage evident.
Roentgenographic examination of the pelvis and lower limbs revealed that the pubic bones were absent and that there was a wide symphyseal separation. The right half of the pelvic ring was hypoplastic and the acetabular cavities absent (Fig. 2 ). On the left side there was an attempt at formation of what appeared to be a femoral head in an otherwise normal tibia. Pelvic obliquity was noticeable and the left leg was 6.7 cm. shorter than the right leg.
The old admonition, "first do no harm," was our guide in the management of this complex case. The initial problem was one of stature. This girl was intelligent and very sensitive. Hence, she was very conscious of her status as a dwarf. At this time the scoliosis seemed to be a slightly less important problem.
The first phase of treatment extended from August 1965 to November 1968 and was highlighted by two events: the application of a pair of pylon or un-jointed prostheses to the lower limbs (Fig. 6), and the fitting of a Kallabis4 spinal brace (Fig. 7 ).
Both feet were subjected to progressive stretching exercises to increase equinus and night splints were applied with the feet in maximal plantarflexion. Simultaneously, a pair of pylon prostheses was manufactured. Each incorporated a SACH foot, conventional shank and molded plastic thigh piece. The right prosthesis was ischial weight-bearing. It took three months of intensive exercising to bring the girl's feet into a position that would fit the prostheses and provide significant mechanical advantage. She was trained to ambulate with a four-point gait and was soon able to do this well (Fig. 8 ). Eventually the prostheses were lengthened three inches. During this period she was still able to walk on her own lower limbs without difficulty.
A Kallabis spinal brace was used to control her scoliosis and. with periodic adjustment, was worn day and night in a routine manner.
In November, 1968. the second phase of her management was begun. During this phase she was shifted to modified above-knee prostheses with knee joints, a built-up left shoe for wear at home, and a Milwaukee spinal brace (Fig. 9 ).
During the early phase of treatment her scoliotic curve had progressed: (1) between D5 to Dll from 40 degrees to 58 degreees; and (2) between D12 to L5 from 58 degrees to 67 degrees Cobb, respectively (Fig. 10 ). A different approach was deemed necessary. A Milwaukee brace was applied and adjusted periodically. The girl was also having difficulties getting in and out of cars and buses, so a pair of modified above-knee prostheses, which included knee joints with locks and SACH feet, was manufactured in our brace shop.
This equipment seemed to work satisfactorily except that when the girl tried to walk on her own lower limbs without the prostheses she noticed that the rigidity of the Milwaukee brace upset standing balance and threw her forward. She was then provided with a pair of crutches (Fig. 11 ) which partly solved the problem of balance. With further correction of the pelvic obliquity, her leg-length inequality was accentuated and the left shoe was built up 2.5 inches (Fig. 12 ).
Her gait was then satisfactory except that marked internal rotation of the left lower limb at heel strike turned the foot internally about 45 degrees during stance phase and slowed her down (Fig. 13 ). This difficulty was corrected by squaring the left heel and carving a posterior roll-on and anterior roll-off on the sole of the shoe (Fig. 14 ). The patient now reported that she could walk comfortably and felt very stable (Fig. 15 ). With the knees of her modified above-knee prostheses locked and long axillary crutches, she has had no difficulty in ambulating with a four-point gait.
One problem has not yet been solved. When sitting, the chin piece of the Milwaukee brace tends to extend her head and put her eyes into a position which precludes reading (Fig. 16 ).
The other anomalies which are associated with the prime deficiencies have been asymptomatic. Situs inversus has been ruled out. At the proper time we plan to fuse her spine to rid her of the spinal brace and render her more self-sufficient and independent. We agree with other authors5 that ambulation with these modified above-knee prostheses requires a great deal of effort on the part of the patient. How long our patient will continue to use them is open to speculation.
This presentation does not offer any new or startling methods of care for this type of patient. We have reviewed her management to date and would appreciate receiving suggestions for future management from readers.
This young lady presents a complicated problem in rehabilitation where very severe lower-extremity dwarfing is combined with scoliosis. The trunk instability has been well controlled and balanced with the Milwaukee brace and crutches. One of our evaluation problems concerns the possibility that ambulation capabilities would be decreased if the spine were fused into the pelvis. This child requires pelvic motion for ambulation and some degree of mobility at the lumbosacral joint must be maintained.
Treatment of the limb deficiency is a somewhat more straight-forward problem. We have accepted Dr. Aitken's recommendation that these limbs not be converted so that she may, to a certain extent, get about without her prostheses. At the 1969 Clinic Chiefs' Meeting, Dr. Charles Epps, D. C. General Hospital, presented a case with Syme's conversions done bilaterally at the patient's request. This young man's ability to get about without prostheses was apparently decreased. Our patient is able, with her prostheses, to reach normal sink standing level. She is as tall as her peers. She can see out a window. These and other rewards are provided by the prostheses which to all intents and purposes represent stilts. In our treatment of this patient we have tried to be conservative and at least not do harm in our enthusiasm to make her over in our own image.
We wish to thank Mrs. Thome of our Physical Therapy Department and the staff of the Orthopedic Appliance Department for the many hours of work and painstaking efforts devoted to the rehabilitation of this patient.
W. G. Phippen, M.D., James M. Hunter, M.D., and A. R. Barak At, M.D. are associated with the Child Amputee Clinic, State Hospital for Crippled Children, Elizabethtown. Pa.
1. Frantz, C. H., and O'Rahilly, R., "Congenital Skeletal Limb Deficiencies." J. Bone and Joint Surg., 43-A: 1224. Dec. 1961.
2. Epps, C. H., Jr., "Upper-Extremity Limb Deficiency with Concomitant Infantile Structural Scoliosis," Inter-Clinic Information Bull., 5:1-9, Nov. 1965.
3. The Limb-Deficient Child: ed. Berton Blakeslee. University of Calif. Press, 23 36. 1963.
4. Kallabis, Manfred, Orthopaedie-Technik, Wiesbaden. Germany. Heft 8: August 1964.
5. Kruger, L. M.. "Classification and Prosthetic Management of Limb-Deficient Children," Inter-Clinic Information Bull., 7:1-25. Sept. 1968.