Rehabilitation of a Child with Multiple Congenital Deformities: A Case Report

P. Nagaraja Rao, M.D. Henry Rosner, M.D. Charulata S. Shirali, M.D. Asa P. Ruskin, M.D., F.A.C.P.


Rehabilitation of a child with limb-deficiency syndrome may pose a distinctly greater challenge than rehabilitation after a traumatic amputation. The task of successful rehabilitation gets more complicated when there are associated deformities.

It is to be noted that even today there is not a standard, internationally accepted classification of limb-deficiency syndromes. The work Frantz and O'Rahilly published in 1961 helped classify the types of limb deficiencies3. A revised nomenclature of the Frantz and O'Rahilly system of classification, published in 1966, is more comprehensive and specifies the types of skeletal-deficiency syndromes2. We have used this system of classification for the patient presented in the following case history.

Illustrative Case History

The child under discussion was born in 1962 with the following abnormalities: bilateral proximal femoral focal deficiency (PFFD), bilateral absence of tibia and fibula (meromelia Tibio-Fibular, bilateral), and the distal ends of the femurs articulating with rudimentary feet (Fig. 1 and Fig. 2 ). Other associated problems were internal strabismus, cleft palate, small mandible, bilateral wing scapula, left thoracic scoliosis, and right radiohumeral synostosis.

Though the object of this article is not to discuss the etiology of congenital malformations, it is interesting to note that this child was born in 1962, at a time when the use of thalidomide had been just recently discontinued. It is possible that the mother had taken this drug during pregnancy, but no positive history could be obtained. The types of defects the child was born with fall into the category of "thalidomide catastrophe"5.

In view of the multiple congenital deformities described above, rehabilitation of this child required combined efforts of our Craniofacial Rehabilitation Center and our Orthopedic Department together with an ongoing program in the Department of Rehabilitation Medicine throughout the entire period. The prescribed rehabilitation program involved several surgical procedures, including closure of the cleft palate at one year of age and release of webbing of the third digit of the left hand at age four. This latter procedure was followed by split-thickness graft from the volar surface of the left wrist; and one year later capsulorrhaphy of metacarpophlangeal joints of 2nd and 3rd, 4th and 5th digits of the left hand was performed. At age five Hibb's procedure was done to stabilize the spine.

At two years of age the patient had good muscle power in her upper limbs and trunk. However, muscle power at the hips was poor. Passive range of motion at the hips was normal. She could not ambulate, but preferred instead to propel herself on her buttocks supported by her upper limbs all the time. She constantly expressed her interest in obtaining some type of prosthesis to help her ambulate.

Some children with bilateral femoral focal deficiency have been fitted successfully with prostheses without any surgical intervention4. PFFD itself poses a distinct problem in rehabilitation, and conservative management must be tried if possible1. Since this child was unable to stand even with hand supports, a special type of body cast was constructed to inclose the whole pelvis and individual lower limbs. With this type of cast she was able to stand between the parallel bars and take a few steps. Since this type of cast seemed to be functional, she was provided with a special type of prosthesis consisting of a bucket type of pelvic support, similar to that used in cases of hemicorporectomy, and bilateral monolithic legs especially constructed to accommodate the deformed feet (Fig. 3 ). The pelvic support was provided with an anterior opening for hygienic purposes. With this type of prosthesis the patient was able to take a few steps by rotating the trunk. She was able to manage with this prosthesis until the age of six, but the child constantly experienced difficulty, complaining of pain in the groin. She was able to walk only between parallel bars. Her gait was slow and was achieved solely by rotating the trunk. With physical therapy the motor power in the hip musculature gradually increased. At the age of six, motor power at the hips could be graded as fair plus.

In view of the foregoing factors it was felt that a bucket type of pelvic support, while useful in the early rehabilitation, could now be improved upon. By providing the patient with a pelvic belt, she could walk by flexing and extending the hips. Since the deformed feet were not providing a good weight-bearing end, Syme's amputation was done bilaterally. Postoperatively she was provided with monolithic prostheses attached to a pelvic belt. She started walking much better and also was able to use a rollator. Since her progress in rehabilitation was good after two years, she was provided with new prostheses to correct the leg length. This time she was given bilateral above-knee prostheses consisting of sockets, pelvic belt, knee joints, and SACH feet. She adapted to the increased height of her prostheses and was able to walk with a rollator. Because the pelvic belt rubbed against the operative scar on the patient's spine, it was replaced by a modified Silesian band. The child is now ambulating well with a rollator (Fig. 4 ).

It is needless to say that motivation of the patient is most important in the outcome of rehabilitation. This patient showed constant interest in the rehabilitation process. When we changed the height of the prostheses from monolithic to regular prostheses, she was very happy to accept them. She attends a special school and has made a good social adjustment.

Conclusion

A complex case of multiple congenital malformation has been presented. As always, rehabilitation requires an innovative and individualized approach. We wish to emphasize consideration of a bucket-type pelvic support of the kind used after hemicorporectomy for patients with inadequate stumps.

Department of Rehabilitation Medicine, Kingsbrook Jewish Medical Center, Brooklyn, New York. Dr. Rao is Assistant Attending, and Physician in Charge of Amputee Clinic.

Dr. Rosner is Associate Director, and Director of Resident Training

Dr. Shirali is Assistant Attending

Dr. Ruskin is Director, and Associate Clinical Professor of Rehabilitation Medicine, Albert Einstein College of Medicine

References:
1. Aitken, G. I., Proximal femoral focal deficiency -definition, classification, and management, pp. 1-22 in Proximal Femoral Focal Deficiency--A Congenital Anomaly, NAS Publication 1734, 1969.
2. Burteh, Robert L., Nomenclature for congenital skeletal limb deficiencies, a revision of the Frantz and O'Rahilly classification. Artif. Limbs, 10:1:24-35, Spring 1966.
3. Frantz, C. H., and R. O'Rahilly, Congenital skeletal limb deficiencies. J. Bone and Joint Surg., 43-A:8:1202-1224, December 1961.
4. Hussain, T., and A. Emmerson, Conservative management of bilateral proximal femoral focal deficiency. Inter-Clin. Inform. Bull., 13:9:9-12, June 1974.
5. Mellin, G. W., and M. Katzenstein, The saga of thalidomide (concluded) neuropathy to embryopathy, with case reports of congenital anomalies. N. Engl. J. Med., 267:1184-1193, 1962.