The Habilitation of a Child with Multiple Congenital Skeletal Limb Deficiencies
W. Phippen, M.D. J. M. Hunter, M.D. A. R. Barakat, M.D.
Despite the increase in knowledge and skill which has come with experience, the treatment of children afflicted with multiple congenital skeletal limb deficiencies is still a severe challenge.
In attempting to habilitate these children, each problem is found to be different and quite perplexing, particularly at first, and taxes our ingenuity and skills to the limit.
Within recent years, extensive experimental work and the rapidly advancing science of genetics have given a much greater understanding of the complex etiological factors involved in congenital malformation, but, with a few exceptions, causes (in the human being) are not well known and methods of preventions are dreams for the future. Birch-Jensen2 reported nine cases of upper-limb transverse hemimelia in a population of 4,024,000. In a total case load of 1,070 congenital amputees reported by the University of Illinois and the Area Child Amputee Center, Grand Rapids, Mich., 74 children had upper-limb hemimelia. Only eleven were affected bilaterally. This defect has been identified as a nonhereditary, sporadic limb-bud arrest.
Accompanying defects included complete paraxial fibular hemimelia. In the same series of 1,070 patients, 88 had complete paraxial fibular hemimelia with 20 being bilaterally involved3.
In our institution we have been confronted with a patient having both types of congenital anomalies bilaterally, i.e., bilateral terminal transverse hemimelia of the upper limbs and bilateral paraxial fibular hemimelia of the lower limbs.
The boy's parents refused surgical conversion of his lower limbs and his fitting with upper-limb prostheses and lower-limb braces without surgery is described in this paper.
C. B., a white male, aged seven years, was seen in our hospital two-and-a-halt years ago with the previously mentioned congenital anomalies (Figs. 1, 2, and 3 ). Associated problems were hypochronic anemia and an undescended right testicle. Birth history revealed a breech delivery, no perinatal complications and a birth weight of 6 lb. 4 oz. His mother was 16 years old at the time of his birth, and his father was 20. There was no history of medication intake during pregnancy.
Physical examination revealed a pleasant boy with a normal intelligence, the Wechsler Intelligence Scale showing an I.Q. of 94. Absence of the elbows, forearms, and hands was noted. A small lobule of fat was present on each distal stump end, the overlying skin being callused.
Examination of the lower limbs showed short below-knee segments bilaterally. There was anterior bowing of the tibiae with a skin dimple at the apex of each tibial bow. The feet are in equinovalgus with the lateral toe rays absent. Roentgen examination revealed the absence of an elbow joint bilaterally. The skull was normal. There was bilateral coxa valga and genu valgum. His bone age was in accordance with his chronological age.
Plan for Habilitation of Upper Limbs
This boy was adjusted satisfactorily considering the maternal care and help that was always readily available. He demonstrated unusual skill in the use of his stumps for activities of daily living (Figs. 4 and 5 ). He was unable to attend to his necessary hygienic needs.
He was fitted with a right above-elbow prosthesis with an internal-locking elbow, a Dorrance 10X voluntary-opening hook and a figure-8 harness (Figs. 6 and 7 ). Terminal-device training was initiated using simple play activities appropriate to the boy's age. Control was achieved promptly. This activity was followed by training in elbow-lock control which was easily assimilated. Self-feeding using a fork and spoon with swivel devices had been difficult and apparently the prosthetic equipment was not worn while the child was away from the hospital. So a period of intensive in-hospital training was instituted and was rewarded by the achievement of independent self-feeding (Figs. 8 and 9 ).
Fitting with a left above-elbow prosthesis similar to the right one was then undertaken. The boy could control terminal-device operation and, with more difficulty, the elbow unit. So far, the left prosthesis has been used only as an accessory holding or stabilizing device. We are in the process of teaching him bathroom activities. He is able to don his clothes with minimal help and tie his shoe laces (Figs. 10 and 11 ). His writing skills are being developed and probably will be supplemented with typewriting at a later date. At one stage in the
boy's training a wrist-flexion unit was fitted to the right (dominant) side. However, the youngster found it too difficult to manage both wrist rotation and flexion and the unit was subsequently removed.
A recent prosthetic-use evaluation reveals the following: C.B. can print, draw, and color with his right arm. He can cut with modified scissors. He can string beads, construct toys, and play ball. He can remove and put on his shirt, socks, and shoes. He can use a spoon in his hook as a pusher and can carry a plate or tray. We are still in the process of teaching him how to fasten buttons and lace his shoes.
Plan for Habilitation of Lower Limbs
Compared to his peers this patient's stature is stunted and he becomes easily tired after standing no more than 5 to 10 minutes. His parents have remained opposed to ankle disarticulations which, after careful consultations1, we believe are indicated. Subsequently, therefore, he was fitted with a pair of long-leg extension braces with 3-point pressure in an attempt to correct the genu valgum. His own feet have been placed 6 inches above floor level (Figs. 12, 13, and 14 ). The braces have free hip joints, drop-lock knees and SACH feet (Figs. 15 and 16 ). He is essentially ambulating on stilts and the height will be adjusted periodically. Continued training in activities of daily living, including getting in and out of conventional furniture, getting up from the floor, and walking on rough ground, will be emphasized. The inherent weight of the long-leg braces has complicated the problem and causes fatigue after the child has ambulated for a short while (Figs. 17 and 18 ).
Experiences in the habilitation of an intelligent but severely handicapped child living in a rural area have been related. This child has become totally independent insofar as eating is concerned, and has acquired considerable independence in other areas as well.
Parental cooperation has improved since they can now see some tangible results, although they are still tempted to baby the boy. The use of lightweight external power equipment to activate the elbow or terminal device of his upper-extremity prostheses might enhance his skill. With his leg braces the patient's stature is now normal.
This patient's training has required a lot of work on the part of the Physical Therapy and Occupational Therapy Departments and our braceshop. It is interesting to speculate on what will happen to him in the future when increased body weight might preclude the use of braces, when his valgus deformities might become progressively worse, and vocational training becomes imperative. Since normal sensory feedback is present the idea of deepening his toe web spaces and mobilizing the toe rays in order to provide him with prehensile digits has been entertained. Numerous additional problems remain to be solved if we are to achieve our goal-that of making this patient totally independent.
We wish to express our appreciation to Mrs. M. Thorne, R.P.T., Miss A. Planck, R.O.T., Mr. A. Glaubitz and Mr. J. Sweigart, our prosthetist and or-thotist, respectively, and to the whole nursing staff for their invaluable assistance in the habilitation of this patient.
State Hospital for Crippled Children, Elizabethtown, Pennsylvania
Aitken, G., Personal communication, Nov. 1969.
Birch-Jensen, A., Congenital deformities of the upper extremities, Copenhagen, Einar Munksgaard, 1949.
Juvenile Amputee Management Course, Chicago, 1969.