Three Cases of Severe Congenital Limb Deficiencies: Twenty-year Follow-up

Henry H. Kessler, M.D.

Only through long-term follow-up can we really assess the value of the many measures employed to habilitate children with severe limb deficiencies. Hopes of parents and physicians stimulated by technical advances are frequently dashed by the limitations of prostheses and occasional lack of community interest. On the other hand, intangible forces are at work in the courage of the patient, the dedication of the parents, and the support of concerned segments of the community. These forces frequently cancel out the negative factors. The three cases which follow illustrate combinations of these forces and factors.

Total Amelia

The first case is that of a boy with amelia of all four limbs. When first seen at the Institute at the age of 19 months (Fig. 1 ), Freddie was found to have complete absence of all upper and lower extremities. In addition, the left scapula was missing, although the right scapula was intact (Fig. 2 ).

Training began with exercises to strengthen the child's trunk muscles. Bending, rolling, and balance exercises were stressed. Short leg stubbies were prescribed at that time. In spite of the absence of his arms, Freddie could balance himself in the standing position and could advance by twisting his body. As he grew older the length of the stubbies was increased and his training programs continued.

At the age of seven years Freddie was fitted with a conventional shoulder-disarticulation prosthesis for the right side. Concentrated training led to satisfactory use of this arm for activities requiring minimal dexterity. Because of the limited amount of musculature in the upper portion of his body, canalization for a cineplastic arm was deemed inadvisable. For a time the prescription of a pneumatic arm was discussed, but this idea was waived in view of Freddie's success with the standard upper-extremity prosthesis.

Freddie and his mother realized the desperate struggle which faced them. With his mother's devotion and the expert care of the therapists, Freddie's ambulation on nonarticulated stubbies progressed. His use of the artificial arm was limited to a few simple functions: bringing a cookie to his mouth, painting, and working a typewriter (Fig. 3 ).

At the age of 10 years, Freddie was ambulating on stubbies for 40 to 50 yards without assistance. Two years later the stubbies were lengthened; these long-leg prostheses had a locked knee joint and normal feet. Shortly after this change, the Institute lost contact with Freddie and his family. Many attempts were made to follow his progress, but no reply was received to the numerous letters sent out.

In the summer of 1970 contact was reestablished; Freddie was now 22 (Fig. 4 ). On a visit to the family, I found Freddie totally dependent on his family. They had, however, insured his graduation from high school. To achieve this goal a frantic routine had been established in their home: his mother picked him up, carried him to the toilet, supervised his dressing, lifted him into the wheelchair, from the wheelchair into the car, and from the car to his desk at school.

One striking impression received during this visit was that Freddie was not considered a freak by the community, but was taken into its heart, attending church, school, and other activities through the constant efforts of his parents. Plans for Freddie to attend law school at a college near his home are under consideration at this time.

Freddie's father, who is familiar with electronics, has prepared a simple device which permitted Freddie, by using his nose or chin to establish immediate contact with the world outside. He could dial this modified telephone using a mouthstick.

Pectoral Cineplasties

The next case is that of a girl, Mei-da, who was presented at a workshop on rehabilitation in Honolulu in 1949. Her mother told me that when Mei-da was born the nurses covered her eyes so that she could not see that the baby had been born completely without arms (Fig. 5 ).

After examing the baby, I suggested the possibility of cineplasty. Through the help of the Honolulu branch of the National Society for Crippled Children and Adults, she was brought to the United States and to the Kessler institute.

She was the first child on whom I performed a bilateral pectoral cineplasty. This involved making a channel on both sides of the chest wall, utilizing a small remnant of the poorly developed pectoralis minor muscle. With patience and persistence, the muscle became strong enough to activate the split-hook utility prostheses (Fig. 6 and Fig. 7 ).

Before achieving prosthetic proficiency, the girl had developed extraordinary ability in the utilization of her toes. She used them as fingers to dress herself, carry food to her mouth, comb her hair, and even to use a paint brush in a very delicate manner (Fig. 8 ).

A year after she left the Institute, I visited Honolulu, confident of her success. I found that she was having some difficulty with the artificial arms because of the need for some minor repairs. With the help of a local prosthetist the repairs were made and use of the arms resumed.

Soon her natural growth and the general wear and tear on the artificial arms brought a crisis. Repairs could no longer be made locally, so arrangements were made to have a special pair of Navy arms fabricated to fit the cineplastic motors in her chest wall. Capt. Thomas Canty, my successor at the U.S. Naval Hospital at Mare Island, Calif., was in charge of this part of Mei-da's rehabilitation. The fitting of the new arms was followed by an intensive course of training. At the age of six years, Mei-da was able to give a phenomenal performance with her new arms.

Then there began the race between her ability to use her prosthetic appliances and the demands of her school and home life. When she had to take notes in school she found it easier to keep up with her class by using her feet. And so, with many other functions as well as writing, her feet gradually took over from her artificial arms.

When she was 13 years old, her family moved to the United States where I had an opportunity to visit her. It was with great disappointment that I realized her feet had won the race for dominance. Only when she eats in a public restaurant does she use her cineplastic arms (Fig. 9 ).

I last saw Mei-da in the fall of 1970; she had graduated from college, and was quite grown up. Yet she carried out 90 per cent of the activities of daily living with her feet. Once again came the realization that human physiological needs come first, and ease of performance dominates engineering expertise.

Bilateral Lower-Limb Amelias

The third case in this 20-year follow-up is that of Larry. Diagnosed as a congenital bilateral hip-disarticulation amputee, Larry was first seen at the Institute at the age of four years (Fig. 10 ). At that time he was fitted with stubbies having a disarticulation socket with manual hip locks and wooden feet pointing backward. The soles of the feet were slightly rounded to permit a small amount of rocking (Fig. 11 ).

A very active and unusually bright youngster, we had little trouble teaching Larry to balance himself. The preliminary exercises were very successful, and training was begun in hip hiking as a preparation for ambulation.

Through gradual lengthening of the stubbies, Larry became adept at simple ambulation without the use of crutches (Fig. 12 ). As he grew, the assistance of crutches was necessary for weight carriage. At the age of seven the prosthesis was altered by the addition of single-axis knee joints with locks, and conventional ankle joints and feet. The length was again increased, but the simple bucket socket was maintained.

In 1960 Larry was re-admitted to the Institute for further ambulation training. He was fitted with a new prosthesis, longer legs being indicated because of his natural growth. He could ambulate with complete independence using crutches, and could maneuver steps and rough terrain with ease (Fig. 13 ).

The final prosthesis prescribed for this patient was made in 1968, and consisted of a bilateral hip-disarticulation prosthesis with anatomically fitting split plastic sockets, Canadian style, anterior hip-control joints, single-axis friction knee joints, wood shins, and SACH feet. With these prostheses he could use Lofstrand crutches and ambulate with a swing-through gait. Most of the normal activities which did not absolutely require ambulation could be carried out without the prostheses (Fig. 14 and Fig. 15 ).

Larry graduated from college and is presently employed as a laboratory technician while taking courses in graduate school. In February 1970 Larry was married (Fig. 16 ), and with his wife he attended our most recent Congenital Amputee Clinic in October 1970.

Founding Medical Director Kessler Institute for Rehabilitation West Orange, New Jersey