A Recurrent Syndrome Of Limb Deficits

Charles H. Frantz, M.D.


During the past ten years, there has been a significant increase in the number of multihandicapped children examined and treated at the Area Child Amputee Center. During this period, three children with an interesting and peculiar combination of limb deficits have appeared. Two additional cases of this syndrome have been contributed from other clinics(I,II) and the series now comprises five cases (Table 1 ).

Common to all cases are: 1) Bilateral upper-limb phocomelia either complete or incomplete1. 2) Bilateral lower limb motor deficits. These lower limbs exhibit characteristics which resemble those of arthrogryposis and show marked internal tibial torsion. Two of the five cases also suffered from the blood platelet deficiencies which are typical of the Fanconi syndrome2,3.

The lower limbs do not demonstrate skeletal deficiencies; however, there is a profound weakness in the muscles with an abnormal positioning attitude. The hips are abducted and flexed. Severe internal torsion of the tibiae is present.

To obtain a functional result with these lower limbs, i.e., to permit the children to stand and ambulate, required the application of long double-upright braces with the knees locked during ambulation.

The histories of the five cases follow:

Case No. 1 (I)

H.D., a female, was born on June 2, 1958. She was first seen at Springfield Shriner's Hospital at eight months of age. The child presented a bizarre combination of upper-limb deficiencies and lower-limb positioning. The history was most revealing. At the age of two weeks, the child was said to have blood in her stools. Two older siblings were normal. In 1956, between the births of these two siblings, the mother miscarried. In 1959, the mother miscarried a second time. The dead fetus at this pregnancy had deformities of both arms--the precise nature is not known. In 1962, a male was born with clinical deformities identical to those of the subject patient (bilateral upper-limb phocomelia, severe flexion deformities of the knees and excessive internal torsion of the tibiae). This infant's symptoms were diagnosed as the Fanconi syndrome. She dies at thirteen days of age from massive gastrointestinal hemorrhage.

H.D. had very short arms and sloping shoulders (Fig. 1 ). The thumbs of each hand were nonfunctional. This is the classical clinic appearance of incomplete phocomelia (Fig. 2 ). X-rays revealed a short proximal bone (presumably the humerus), and a rudimentary ulna with no radius. The lower limbs rested in an abnormal attitude, the femora being flexed, abducted and externally rotated. The flexion of the braces was limited to between 90 and 100 degrees, with severe internal torsion of the tibiae. The femoral heads were well seated in the acetabula.

Following bilateral, posterior, soft tissue releases about the knees, the child was fitted with derotating braces. Recurrence of the knee deformities necessitated repetition of the procedure seventeen months later. Three months following the second attempt at soft tissue release, bilateral derotation osteotomies were successfully accomplished. The child was then fitted with long-leg double-upright braces because of weak quadriceps extensors (Fig. 3A and 3B ).

During the course of her treatment, H.D. was fitted with a nonstandard prosthesis on her left upper limb. Initially, this apparatus was accepted by the child but eventually was discarded as being too cumbersome. At the present time she wears no upper-limb prosthesis. Her I.Q. is 95.

Case No. 2

D.J., a female, was born on April 2, 1960. She was first seen at the age of 15 months. She was known to have blood dyscrasia (III). This child presented a severe degree of thrombocytopenia; her platelet count was 10,000 which suggested a diagnosis of the Fanconi syndrome. There was one normal sibling. The child was well-nourished and alert. The upper limbs were foreshortened. These had the appearance of a complete phocomelia (Fig. 4 ). However, X-rays (Fig. 5 ) demonstrated complete phocomelia on the left upper limb and distal phocomelia on the right. The lower limbs rested in hip abduction, and knee flexion. There was severe internal torsion of the tibiae (Fig. 6 ). Repeated blood studies revealed a variation in platelet count from 20,000 to 50,000. Bone-marrow biopsies did not demonstrate megakaryocytes. Because of this situation, surgery was deferred and the child was fitted with a long-leg, knee-flexion derotation brace (Fig. 7 ). She has done quite well in the last three years. She is now in school and ambulates in short-leg double-upright braces. Her platelet count has not increased to any significant degree.

Case No. 3

C.G., a female, was born on January 15, 1953. She was first seen at the age of 12 years. She was born with phocomelic upper limbs, flexion contractures of the knees, and internal torsion of the tibiae (Fig. 8 A/B ). At the age of five years, she had a left nephrectomy for a nonfunctioning kidney and also an osteotomy of the left femur. At ten years of age, she had soft tissue releases posteriorly in both knees. This child was very alert and cooperative. She presented a classical phocomelic picture of upper-limb involvement (Fig. 9 ). Her pinch pattern for prehension utilized the index and long fingers bilaterally. The knees were in 125 degrees of flexion; the tibiae demonstrated 40 degrees of internal torsion; the hips were flexed at about 40 degrees. It was necessary to use long-leg double-upright braces for ambulation (Fig. 10 ).

Case No. 4

L.A.N., a female, was born on August 30, 1941. She was seen initially at the age of 15 years. She was an only child. This patient was born with upper-limb phocomelia and malalignment of the lower limbs (Fig. 11 , Fig. 12 A/B ). At the age of two years, derotation osteotomies of the tibiae were performed. She has supracondylar osteotomies of the femurs--the left at six years of age and the right at seven years. At her initial examination, L.A.N, was found to be an extremely bright and pleasant girl. She had upper-limb complete phocomelia (Fig. 13 ). Her standing posture exhibited about 30 degrees of flexion and mild external rotation of the femora and hips. She ambulated freely with a long double-upright brace on the left lower limb but without a brace on the right limb. The knees were at about 160 degrees extension.

This girl was sufficiently mature to ask for aid in performing such tasks of daily living as dressing, undressing, combing her hair, and toilet care. Her I.Q. was 120. She is now engaged in postgraduate work in a state university.

Case No. 5 (II)

M.H., a male, was born on October 12, 1959. This boy was first seen at the Amputee Clinic at the University of Illinois. On March 11, 1965, at the age of five years, examination revealed bilateral upper-limb phocomelia (left incomplete distal). He ambulated with the aid of a long-leg double-upright brace. He demonstrated a mild flexion at the knees (160 degrees) and internal tibial torsion bilaterally.

His history revealed that when he was first examined at the University of Chicago Clinic, the child, prior to treatment, demonstrated abducted hips, 80 degrees flexion at the knees, and severe bilateral internal tibial torsion (Fig. 14 A/B ). On two occasions he had been subjected to supracondylar osteotomies of the right femur in an attempt to overcome the knee-flexion deformity (Fig. 15 ). It was necessary to fit him with long-leg braces to effect ambulation. The family history revealed one younger male sibling with bilateral upper-limb phocomelia but with normal lower limbs.

Discussion

The diagnoses of these five patients reveal a combination of involvements of the four limbs which may be designated as a syndrome. Structural defects exist in the upper limbs, and dynamic deficits plus torsional deviations exist in the lower limbs. Two of the five cases suffered from thrombocytopenia and exhibit the characteristics of the Fanconi syndrome.

It is not the intent of this report to discuss in detail the management of upper-limb bilateral phocomelia. The deficits of the upper limbs very obviously present problems in depth relative to prehension and the functions which are required for the activities of daily living.

The lower-limb problem is one of positioning and dynamics. All children presented abduction and flexion at the hips with knee positioning at 150 to 165 degrees extension with functional loss of the quadriceps. All of these children demonstrated severe internal tibial torsion. In Case 1, the surgeons were able to obtain full extension of the knee, but the child required long-leg double-upright braces in order to stand and ambulate.

Surgical intervention, when permissible, is necessary to obtain proper alignment of the lower-limb components. The quadriceps weakness does not change. The deficits of power persist into adulthood, and it is interesting to note that with the aid of long-leg double-upright braces, there is a persistent gluteal gait during ambulation. The oldest patient (Case 4) is now 28 years of age. The two cases exhibiting the Fanconi syndrome are now 11 years (Case 1) and 9 years (Case 2), respectively. These girls are in elementary school and continue to demonstrate their thrombocytopenia.

Summary

  1. Five cases (four females and one male) of a bizarre, recurrent syndrome have been presented.

  2. Upper-limb involvement is manifested by bilateral phocomelia (complete or incomplete).

  3. Lower-limb involvement suggests arthrogrypotic-like deficits in the musculature with the classical hip flexion, abduction, attitude, and knee flexion with severe internal torsion of the tibiae.

  4. Two of the females in the group demonstrated thrombocytopenia (Fanconi syndrome).

  5. Two of the patients had siblings with similar deficits.

Bibliography

  1. Frantz, C.H., and O'Rahilly R.: "Congenital Skeletal Limb Deficiencies," J. Bone and Joint Surg.. 43-A:1202-1244, Dec. 1961.

  2. Fanconi, G.: "Familiare Infantile Perniziosaartige Anamic," (Perniziosis Blutlild and Konstitution), Jahrbuch Kinderh., 117:257, 1927.

  3. Frantz, C.H., and Burr, J.: "The Fanconi Syndrome," Inter-Clin. Information Bull., IV:4, Feb. 1965.

Charles H. Frantz, M.D. is associated with the Area Child Amputee Center Michigan Department of Public Health Grand Rapids, Michigan

References:
1. Shriner's Hospital for Crippled Children, Springfield, Massachusetts. Courtesy of Leon M. Kruger, M.D. 
2. University of Illinois, Child Amputee Clinic, Chicago, Illinois. Courtesy of Claude N. Lambert, M.D. 
3. Dr. Julius Rotsky, Director, Clinical Laboratories, St. Joseph Hospital, Pontiac, Michigan.