Proximal Femoral Focal Deficiency: A Complicated Case
GEORGE R. JAY, M.D.
In the relatively uncomplicated case of unilateral proximal femoral focal deficiency (PFFD) with a progressively increasing leg-length discrepancy anticipated, early disarticulation of the foot and the fitting of a prosthesis is the typical modern method of treatment. However, when the PFFD is complicated by other deficiencies or abnormalities, characterized in the extreme by bilateral upper-limb amelia, a different approach to management is required.
In this extreme case, as in the child with bilateral upper-limb amelia but normal lower limbs, the feet are needed for functional activities within the house. Thus the maintenance of foot skillS and a flexible spine and hips are to be encouraged whether upper-limb prostheses are fitted or not. The case described in this report illustrates the cautious approach to treatment which seems to be indicated under these circumstances.
The patient (K.M.) was first seen in our Amputee Clinic when he was seven weeks of age. He was noted to have multiple congenital anomalies including bilateral upper-limb amelia; a proximal femoral focal deficiency of the right hip; a congenital dysplasia of the left hip; an infantile scoliosis; and a left torticollis with facial asymmetry. The PFFD is probably of the Aitken Type A, as the acetabulum appears to be competent and there are now signs of early calcification of the femoral head ( Fig. 1 ). When he was five months of age the patient was fitted with a helmet for head protection. Looking toward the possibility of externally powered prostheses for the upper limbs at some future date, he was fitted with shoulder caps bilaterally. A flipper was placed at the left shoulder to promote head turning, in an effort to stretch the torticollis. Two months later the torticollis had improved measurably and his scoliosis was not progressing.
At one year of age when he was beginning to ambulate K.M. had one inch of shortening in the right lower limb which was treated with a shoe lift. By two years of age the child had become quite adept in using the toes of both feet with equal dexterity for picking up and manipulating objects. This accomplishment prompted us to reject any notion of surgery in the lower limbs, since his toe dexterity provided a level of function that was superior to that which could be obtained from any prosthesis. The leg-length discrepancy in the right lower limb continued to increase, so that by 2 and 1/2 years of age this limb was three inches shorter than the left. The shoe lift to compensate for this shortening became excessively large and heavy and he rejected it in favor of going barefoot so that he could use his toes for play activities. By 3 and 1/4 years of age, the right-leg shortening had progressed to five inches and K.M. preferred not to walk but simply scooted around on his buttocks. He was then fitted with a four-inch shoe lift attached to a short-leg brace which did not improve his ambulation and he continued to perform most of his daily activities in his bare feet. By age five he had developed hip- and knee-flexion deformities in the right lower limb, secondary to the leg shortening and the proximal deficiency at the hip and femur. Also because of the leg-length discrepancy, he now walked with marked hip flexion on the right side and a squatting-type gait. It was then decided to fit him with a ship-ventilator-type prosthesis with the foot in plantar flexion and a SACH foot below the anatomical foot. A suspension strap attached to a waist belt was also provided ( Fig. 2 , Fig. 3 , Fig. 4 , and Fig. 5 ). This prosthesis serves to equalize K.M.'s leg lengths and improves his gait. Its drawback of course is that someone has to take the boy's prosthesis off in order for him to use his foot and toes when needed.
The increasing leg-length discrepancy from the proximal femoral focal deficiency necessitated the fabrication of this prosthesis, which we feel is an acceptable but temporary solution to the problem. We are much impressed with the dexterity of this boy's feet as substitutes for his hands, and are convinced that any surgical procedure to correct his deformity or hip instability would only jeopardize this important adaptation.
Descriptors: Bilateral upper-limb amelia: nonstandard prosthesis; proximal femoral focal deficiency (PFFD).
Oklahoma City, Oklahoma