Congenital Absence Of Femur And Fibula: Report of Two Cases
Robert B. Acker, M.D.
Reprinted by permission of the author and publisher from Clinical Orthopaedics, Philadelphia, J.B. Lippincott Co., 1959, 15, 203-207.
Congenital deformities of the leg are multiform, and almost any pattern may be encountered. Total absence of the femur and the fibula is a pattern that is not common. Two cases of this unusual developmental anomaly are reported here.
Fig. 1
Clinical Description
Case 1. A Negro female child first seen at 2 years of age. An otherwise healthy child with a congenital defect of the right leg. Roentgenographic examination disclosed complete absence of the femur and the fibula, the upper end of the tibia occupying a position in proximity to the acetabulum but not forming a joint. There was indication of a fairly well-formed acetabulum. Later, a center of ossification appeared in the hip area, and, as the child grew and bore weight, this center developed into a recognizable head and neck of the femur, the head articulating with the acetabulum and the. acetabulum showing more development. The right leg extended as far as the knee of the opposite leg and was movable in all directions but not with the same range as a normal hip. The leg was reasonably stable, there being some lateral thrust when weight was borne. The foot was of normal contour and functioned well.
Fig. 2
Case 2. A white male child first seen at 3 years of age. An available roentgenogram made when he was 3 months old showed a congenital deformity very similar to that of Case 1. There, was a complete absence of the femur and the fibula, the upper end of the tibia being below the acetabulum area and not contacting it. In this case the acetabulum was not developed.
A center of ossification was seen in this early roentgenogram, above the proximal end of the tibia, which center later developed into a segment of bone of no specific contour. There is no direct resemblance of this fragment to femoral condyles or femoral neck, but most likely it represents femoral condyle area. Placement of this bone has a tendency to stabilize the hip area more than before. The foot accompanying this short tibial leg possessed all its components but was a marked clubfoot of the equinovarus type. It became necessary to correct the position by wedging in plaster before the prosthesis could be fitted. The deformed leg was freely movable in all directions, but, as in Case 1, the range of motion was not normal.
Fig. 3 Fig. 4
Comments
Before a prosthesis was fitted in these cases, the favorite means of locomotion was by bearing weight on the fool of the short leg and the knee of the normal leg. Thus equalizing the weight distribution.
Fig. 5
The problem was to supply a suitable prosthesis so designed that sacrifice of any part of the short leg was not necessary, and the foot, a fairly good one. could be used comfortably to assist in weight-bearing and balance. Amputation of the foot, if it seems to be necessary, should be deferred until full skeletal growth has been accomplished. We find the short leg with foot attached to be a very desirable stump, free of pressure abrasion, and comfortable, with weight-bearing at its end. It supplies the prosthesis with more power and easier mobility than a short stump. The chief handicap, with the foot in place, is to devise a workable knee bend. The two main difficulties in function of such a prosthesis are:
- The problem of a loose joining in the hip region, not a true joint; consequently, an unstable point of body support with side thrust.
- The problem of the foot, which is an important asset in stabilizing and controlling the prosthesis. On the other hand, it is unsightly cosmetically, especially in a female, and adds a difficulty in locating a satisfactory knee-joint bend. However, it is thought that when adult stature is reached, the foot on the short leg will be on the level or above that of the knee of the normal leg, thus solving the proper location of a knee bend in future prosthesis.
The initial prosthesis (Fig. 6, bottom left) consisted of a pelvic band— a laced leather cuff enclosing the leg and a shoe for the foot, riveted to a metal plate attached to the side bars. Below this, a contoured artificial leg and foot were attached with a second shoe for weight-bearing. In Case 2, the foot was in equinovarus and was wedged in plaster for better fitting in the shoe. The children learned to walk and balance well with these appliances.
At 6 years of age a better-proportioned, neater and improved fitting prosthesis was supplied: in Case 1, without bend; in Case 2, a bend below the foot. These are now being tested. In both cases the foot was wedged into equinus for better position before applying the last prosthesis.
Summary
Congenital absence of both femur and fibula is a relatively rare condition. Search of the literature disclosed its rarity: references to this particular anomaly were meager. Doctors should be encouraged to report congenital anomalies. Such reports are desirable; they would serve as a valid basis for statistical study.
Fig. 7
Editor's Note: The prostheses of these cases were made and fitted by Mr. Walter Pawlowski, C.P., of the Calumet Orthopedic Appliance Company of Gary. Indiana. Mr. Pawlowski is an AOPA member.
The Journal is indebted to Mr. Pawlowski for the additional pictures which appear on this page.
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