Proximal Femoral Focal Deficiency and Amelia: A Case Report

BY A. KRITTER, M.D. DAVID BECKER, M.D.


Proximal femoral focal deficiency (PFFD) is a partial deficiency of the proximal femur involving the iliofemoral joint. This condition has been designated as "proximal femoral focal deficiency" or PFFD, as neither the Frantz/O'Rahilly nor the Hall classification system for skeletal limb deficiencies adequately describes this defect1'36. Clinically, the patient has a short femoral segment that is flexed, abducted, and externally rotated. The knee joint may be normal and the tibia of normal length, usually with the foot on the affected side about at the level of the contralateral knee. Aitken has proposed four distinct radiologic divisions of PFFD and has reported a 68.9-percent incidence of paraxial fibular hemimelia in the affected limb.

The treatment of PFFD presents formidable problems in judgment and staging. When combined with amelia of the contralateral limb, this problem is significantly more complicated. Treatment of PFFD frequently involves ablation of the foot by Syme's amputation and prosthetic fitting of the patient as an above-knee amputee6. However, in this patient it did not seem reasonable to remove the effective foot and ankle motor unit because of her contralateral amelia. Thus, the approach to the treatment problem in this case involved consideration of foot use by means of an eventual Van Nes procedure'2. Since this combination of limb deficiencies is quite rare, we had little or no previous experience to guide us. Hence, we were simply using our best judgment in dealing with it.

Case Summary

Now 8 and 1/2 years old, this white female was seen originally at the Milwaukee Children's Juvenile Amputee and Congenital Limb Deficiency Clinic in July 1966 at the age of two months. She was referred because of a right lower-limb amelia and left proximal femoral focal deficiency. The trunk and upper limbs were normal. The mother had an uncomplicated pregnancy and delivery, with no prenatal illnesses. The mother's only medication had been Dristan. Birth weight was 5 lb. 4 oz. with no fetal distress. There was no family history of congenital skeletal limb deformities.

On physical examination the child was found to be a normal, healthy, two-month-old, white female with a typical left proximal femoral focal deficiency showing the short externally rotated femur, unstable hip, and a normal left leg and foot. There was a complete amelia of the right lower limb with a skin nubbin ( Fig. 1 ).

X-rays showed the right amelia and the left proximal femoral focal deficiency, Aitken Class D ( Fig. 2 ).

Initial treatment was delayed until the age of seven months when a plastic pelvic "bucket" mounted on casters was fitted leaving the left limb free for use in propelling the "bucket" and to begin orientation to standing balance ( Fig. 3 ).

In Memoriam

It is with a sense of profound loss that we announce the death of Hector W. Kay on March 31, 1975, at the age of 65.

All who knew him in his capacity as Editor of the Inter-Clinic Information Bulletin since its first issue, as Assistant Executive Director, Committee on Prosthetics Research and Development, National Academy of Sciences, since 1965, and as Associate Director, Adult and Child Prosthetic Studies, New York University (1952 1965), share our sorrow. A warm, sympathetic, and understanding friend is no more.

His name will remain on the ICIB masthead for the May and June issues, as he left a sufficient amount of edited material with us. Our memory of Hector W. Kay will last far longer.

When the child was 12 months of age a modified Canadian hip-disarticulation-type prosthesis with a nonarticulated pylon was fabricated for the right amelia. The nonarticulated pylon was the same length as the short left lower limb. Although the left hip lacked good stability, she walked with assistance, eventually becoming independent on her crutches at the age of two years using this prosthesis with the right nonarticulated pylon lengthened at intervals ( Fig. 4 ).

At four years and seven months a tibial rotation-plasty was performed on the left leg following the concept of the Van Nes procedure9 ( Fig. 5 ).

The tibial rotation-plasty healed satisfactorily in six weeks in a long-leg cast ( Fig. 6 ) at which time a cast was taken for the fabrication of the tibial rotation-plasty-type prosthesis ( Fig. 7 ).

The patient was then fitted with a Canadian hip-disarticulation prosthesis on the right and a specially modified below-knee-type prosthesis on the left to accommodate the tibial rotation-plasty, utilizing the ankle joint as a knee joint ( Fig. 8 ).

It is anticipated that at the time of skeletal maturity an arthrodesis will be performed to correct the flexion deformity of the left knee-joint and provide a more stable lever arm. This procedure should improve the function of the tibial rotation-plasty and provide a better reciprocal gait. The tibial rotation-plasty functions well now and provides the child with an active motor unit for walking and particularly for rising from a sitting position.

Summary

The results of treatment for this patient have been particularly rewarding in that she functions as a hip-disarticulation on the right and by means of the tibial rotation-plasty as a fair below-knee amputee on the left. If she had had the conventional treatment of a Syme's amputation on the left, she would have functioned at the above-knee level on that side. The presence of the foot and ankle joint as an effective motor unit has significantly increased her function. She attends regular school and, using two crutches, has a meaningful gait with respect to distance and energy consumption.

Juvenile Amputee Clinic, Children's Hospital, Milwaukee Wisconsin

Juvenile Amputee Clinic, Children's Hospital, Milwaukee Wisconsin

References:
1. Aitken, George T., Proximal femoral focal deficiency-Definition, classification, and management. A Symposium in Washington, D.C., June 13, 1968. Proximal Femoral Focal Deficiency, A Congenital Anomaly, NAS Publication 1734, 1969.

2. Borggreve, J., Kniegelenksersatz durch das in der Beinlangsachse um 180 degree gedrehte Fussgelenk. Arch. fUr Orthop. und Unfall-Chir., 28:175-78, 1930.

3. Frantz, C. H., and R. O'Rahilly, Congenital skeletal limb deficiencies. J. Bone and Joint Surg., 43-A:8:l202-24, December 1961.

4. Guilleminet M., L. Michel, and C. R. Michel, Documents sur L'Absence Congenitale du Femur. Pediatrie, 14:615-17, 1959.

5. Guilleminet, M., L. Michel, and C. R. Michel, Aplasie des deux Tiers Superieurs de la Diaphyse Femorale. Lyon Chir., 58:418-19, May 1962.

6. Hall, C. B., M. B. Brooks, and J. F. Dennis, Congenital skeletal deficiencies of the extremities: Classification and fundamentals of treatment. J.A.M.A., 181:590-99, 1962.

7. Hall, J. E., Rotation of congenitally hypoplastic lower limbs to use the ankle joint as a knee. Inter-Clin. Inform. Bull., 6:2:3-9, November 1966.

8. King, R. E., Some concepts of proximal femoral focal deficiency. I. Bone and Joint Surg., 49-A :7:1470, October 1967.

9. Kritter, A. E., Tibial rotation-plasty for proximal femoral focal deficiency. Submitted for publication.

10. Murat, J. E., M. Guilleminet, and R. Descamps, Long-term results of rotation-plasty in two patients with subtotal aplasia of the femur. Am. J. Surg., 113:676-79, May 1967.

11. Telson, D., Substitution of an ankle for the knee joint of a prosthesis. Adelphi Hosp. Bull., 5:2-6, 1946.

12. Van Nes, C. P., Rotation-plasty for congenital defects of the femur. J. Bone and Joint Surg., 32-B:l2-16,February 1950.