Orthopedics

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Feature Articles 

Clinical Features and Treatment of the Hip in Multiple Epiphyseal Dysplasia in Childhood

Lian Yong Li, MD; Qun Zhao, MD, PhD; Shi Jun Ji, MD, PhD; Li Jun Zhang, MD; Qi Wei Li, MD

Abstract

Multiple epiphyseal dysplasia is a rare congenital osteochondrodysplasia disorder characterized by a delay in the appearance of the epiphyses; irregular, symmetric epiphyseal formation; mild short stature; and early-onset osteoarthritis. Peripheral weight-bearing and nonweight-bearing joints can be affected. Treatment of the hip deformity in multiple epiphyseal dysplasia is a challenge for orthopedic surgeons.

We reviewed the clinical features and treatment options of hip joints affected by multiple epiphyseal dysplasia in 6 young patients (4 boys and 2 girls). Average patient age was 8.8 years (range, 5-14 years). The spectrum of hip joint deformity ranged from mild to severe. Surgical procedures included intertrochanteric extension osteotomy of the femur in 2 patients (4 hips), Staheli acetabular augmentation in 1 patient (2 hips), and trochanter arthroplasty associated with Dega osteotomy in 2 patients (4 hips). One patient did not undergo surgical treatment. All patients were followed up for an average 7.2 years. Joint function improved in the patients treated surgically. The coxa vara deformity was corrected satisfactorily, and the femoral head was covered completely by the acetabulum.

Good mid-term outcomes were obtained for the treatment of severe hip deformity by using intertrochanteric extension osteotomy and trochanter arthroplasty. However, because of the inherent nature of this disorder, long-term follow-up of the patients is required.

Multiple epiphyseal dysplasia is a congenital osteochondrodysplasia disorder first described and named by Fairbank in 1947.1 In a Danish study, the prevalence of multiple epiphyseal dysplasia was 9.0/100,000.2 Wynne-Davies and Gormley3 previously published a possible prevalence of 11/1,000,000.

Until today, mutations in 6 different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) have been identified in patients with a multiple epiphyseal dysplasia phenotype.4-7 Most of them follow a dominant mode of inheritance, although 1 recessive form has recently been described. Multiple epiphyseal dysplasia is being detected with increasing frequency with the advance of genetics.

The condition is characterized by a delay in the appearance of the epiphyses; irregular, symmetric epiphyseal formation; mild short stature; and early-onset osteoarthritis. Peripheral weight-bearing and nonweight-bearing joints can be affected. The most frequent sites of involvement are the hips and knees. The clinical features of multiple epiphyseal dysplasia expressed in the knee have been reported.8,9 However, the diagnosis and treatment of hip deformities affected by multiple epiphyseal dysplasia have rarely been described. The purpose of this study was to review 6 patients with multiple epiphyseal dysplasia and to clarify the clinical features and treatment options of hip joints affected by this disorder in childhood.

From 1999 to 2004, 6 patients (4 boys, 2 girls) with multiple epiphyseal dysplasia were treated at our institution. Average patient age was 8.8 years (range, 5-14 years). The main reports were of pain in the hips or knees and waddling gait associated with joint stiffness. The familial form was observed in 2 patients from 1 family, and the other cases were sporadic. Physical examination demonstrated that all patients had. 2 pairs of joints affected. Joint abnormalities included angular deformity, limited range of motion (ROM), and pain (Table). Four patients exhibited duckling gait, positive Trendelenburg’s sign, and limited abduction on the bilateral hips. In patients 3 and 4, severe stiffness (5° of abduction and 45° of flexion) in the hips was noted, and they had some difficulty with activities of daily living. One patient presented with hip pain due to the development of degenerative arthritis. In all patients, muscular and facial development were normal, and intellectual function was not disturbed. Dwarfism was mild. No notable abnormalities were found in the other systems.

Radiographs demonstrated hypoplastic and irregular epiphyses in the involved joints, and the secondary ossification centers were small and flattened, with…

Abstract

Multiple epiphyseal dysplasia is a rare congenital osteochondrodysplasia disorder characterized by a delay in the appearance of the epiphyses; irregular, symmetric epiphyseal formation; mild short stature; and early-onset osteoarthritis. Peripheral weight-bearing and nonweight-bearing joints can be affected. Treatment of the hip deformity in multiple epiphyseal dysplasia is a challenge for orthopedic surgeons.

We reviewed the clinical features and treatment options of hip joints affected by multiple epiphyseal dysplasia in 6 young patients (4 boys and 2 girls). Average patient age was 8.8 years (range, 5-14 years). The spectrum of hip joint deformity ranged from mild to severe. Surgical procedures included intertrochanteric extension osteotomy of the femur in 2 patients (4 hips), Staheli acetabular augmentation in 1 patient (2 hips), and trochanter arthroplasty associated with Dega osteotomy in 2 patients (4 hips). One patient did not undergo surgical treatment. All patients were followed up for an average 7.2 years. Joint function improved in the patients treated surgically. The coxa vara deformity was corrected satisfactorily, and the femoral head was covered completely by the acetabulum.

Good mid-term outcomes were obtained for the treatment of severe hip deformity by using intertrochanteric extension osteotomy and trochanter arthroplasty. However, because of the inherent nature of this disorder, long-term follow-up of the patients is required.

Multiple epiphyseal dysplasia is a congenital osteochondrodysplasia disorder first described and named by Fairbank in 1947.1 In a Danish study, the prevalence of multiple epiphyseal dysplasia was 9.0/100,000.2 Wynne-Davies and Gormley3 previously published a possible prevalence of 11/1,000,000.

Until today, mutations in 6 different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) have been identified in patients with a multiple epiphyseal dysplasia phenotype.4-7 Most of them follow a dominant mode of inheritance, although 1 recessive form has recently been described. Multiple epiphyseal dysplasia is being detected with increasing frequency with the advance of genetics.

The condition is characterized by a delay in the appearance of the epiphyses; irregular, symmetric epiphyseal formation; mild short stature; and early-onset osteoarthritis. Peripheral weight-bearing and nonweight-bearing joints can be affected. The most frequent sites of involvement are the hips and knees. The clinical features of multiple epiphyseal dysplasia expressed in the knee have been reported.8,9 However, the diagnosis and treatment of hip deformities affected by multiple epiphyseal dysplasia have rarely been described. The purpose of this study was to review 6 patients with multiple epiphyseal dysplasia and to clarify the clinical features and treatment options of hip joints affected by this disorder in childhood.

Materials and Methods

From 1999 to 2004, 6 patients (4 boys, 2 girls) with multiple epiphyseal dysplasia were treated at our institution. Average patient age was 8.8 years (range, 5-14 years). The main reports were of pain in the hips or knees and waddling gait associated with joint stiffness. The familial form was observed in 2 patients from 1 family, and the other cases were sporadic. Physical examination demonstrated that all patients had. 2 pairs of joints affected. Joint abnormalities included angular deformity, limited range of motion (ROM), and pain (Table). Four patients exhibited duckling gait, positive Trendelenburg’s sign, and limited abduction on the bilateral hips. In patients 3 and 4, severe stiffness (5° of abduction and 45° of flexion) in the hips was noted, and they had some difficulty with activities of daily living. One patient presented with hip pain due to the development of degenerative arthritis. In all patients, muscular and facial development were normal, and intellectual function was not disturbed. Dwarfism was mild. No notable abnormalities were found in the other systems.

Physical Examination and Radiographic Findings

Radiographs demonstrated hypoplastic and irregular epiphyses in the involved joints, and the secondary ossification centers were small and flattened, with poor congruity. In all patients, the fingers and toes were short and thick. Radiographic findings in the spine were almost normal. The severity of hip joint deformity ranged from mild to severe and symmetric (Table). In patients 5 and 6, the femoral head and neck appeared nearly normal, although the epiphyses were mildly irregular and decreased in size. In patients 1 and 2, the femoral epiphyses were irregular and fragmented evidently, with associated femoral neck shortening, widening, and varus deformity (Figure 1A).

The most severe deformities were seen in cases 3 and 4. Anteroposterior (AP) view of the hip showed an absence of the femoral head; a severely shortened, widened femoral neck; and marked coxa vara deformity (Figure 1B). Magnetic resonance imaging (MRI) of the hip revealed that the cartilaginous end of the femur was enlarged and mushroom shaped, and the slipped epiphysis complicated the coxa vara deformity. The greater trochanter was high and impinged with the superolateral acetabular edge (Figure 1C). Patients 3, 4, and 5 had significant changes at the acetabulum consisting of a shallow, irregular acetabular roof and increased acetabular index.

Figure 1A: Preoperative AP radiograph of patient 2 Figure 1B: Preoperative AP radiograph of patient 4 Figure 1C: MRI of patient 4
Figure 1: Preoperative AP radiograph of patient 2 showing that the bilateral femoral epiphyses are irregular, small, and fragmented, with a shortened, widened femoral neck. Evident coxa vara deformities are noted (A). Preoperative AP radiograph of patient 4 showing that the bilateral femoral heads are absent and the femoral necks are shortening and widening severely, with a high-standing greater trochanter and extreme coxa vara deformity (B). MRI of patient 4 showing that the cartilaginous end of the femur is enlarged and mushroom-shaped, and a slipped epiphysis complicating the coxa vara deformity (C).

Surgical procedures included intertrochanteric extension osteotomy of the femur in patients 1 and 2, Staheli acetabular augmentation in patient 5, and trochanter arthroplasty associated with Dega osteotomy in patients 3 and 4 (Figure 2). One patient with mild changes in the hips did not undergo surgical treatment. All patients were subsequently followed up for an average 7.2 years (range, 6-9.5 years).

Figure 2A: Overgrowth of the greater trochanter Figure 2B: Overgrowth of the greater trochanter
Figure 2: Diagram of trochanter arthroplasty. The misshapen cartilaginous end of the femur is shaped into nearly normal contours to accord with the acetabulum. The shaded parts represent the areas that need to be excised. The epiphyseal plate area of the greater trochanter should be resected completely to prevent overgrowth of the greater trochanter (A). The epiphysis of the greater trochanter is transferred to the lateral part of distal femur and fixed with 2 screws (B).

Results

No intraoperative complications were observed. At final follow-up, patients 1 and 2 exhibited almost normal gait and reversed Trendelenburg’s sign, with a range of hip abduction increased from 30° to 45°. The neck-shaft angle and articulotrochanteric distance was 134° and 16 mm, respectively (Figure 3A). In patients 3 and 4, ROM of the hips was 95° of flexion and 55° of abduction. Both had a negative Trendelenburg’s sign and mild residual waddling gait, but had no difficulties with activities of daily living. Radiographs revealed a neck-shaft angle of 142°, with good congruity between the acetabulum and femoral head (Figure 3B). In patient 5, although there was mild pain in the hips with overactivity, the femoral head had been contained completely by the acetabulum, with an acetabular head index of 100%. Patient 6 did not undergo surgical treatment because the changes in the hips were mild, and no obvious clinical abnormalities noted at final follow-up.

Figure 3A: Radiograph of the left hip of patient 2 Figure 3B: Radiograph of the left hip of patient 2
Figure 3: Radiograph of the left hip of patient 2 five years after intertrochanteric extension osteotomy of the femur (A). Radiograph of patient 4 seven years after Dega osteotomy and trochanter arthroplasty on bilateral hips, showing a satisfactory appearance of the hips (B).

Discussion

Multiple epiphyseal dysplasia can be diagnosed in early childhood and affects almost all epiphyses. Osseous involvement is bilateral and symmetric. Many patients can belong to 1 family, but considerable variation may exist in the severity of the disease among family members. Although molecular test is important for the diagnosis of multiple epiphyseal dysplasia, it is almost impossible for all patients because of the diversity of susceptive genes. Therefore, the diagnosis of this disorder mainly depends on clinical and radiographic findings. Eguchi’s criteria is widely used in clinic, in which multiple epiphyseal dysplasia is diagnosed radiographically when abnormalities are observed in multiple epiphyses of .2 paired joints, with almost normal findings in the spine and facial appearance.10 All patients in current study met the above criteria.

The most frequent sites of involvement are the lower limbs’ weight-bearing bones. The frequency of hips being affected is approximately 97% to 100%.8,11 Multiple epiphyseal dysplasia expressed in the hip has a wide spectrum of joint deformity from mild to severe and exhibits a chronic disease process. In some cases (as in patients 5 and 6), the deformity in the hip is difficult to diagnose until the patient reports pain due to the development of osteoarthritis or other abnormalities, such as joint stiffness or gait disturbance.

Based on the radiographic findings of our patients and a review of the literature, we classified the primary defects in multiple epiphyseal dysplasia expressed in the hip into 3 groups: grade I, the proximal femoral epiphysis is mildly irregular, with a normal (patient 6) or hypoplastic acetabulum (patient 5); grade II, the femoral epiphysis was irregular, flattened, and fragmented evidently and the femoral neck was shortened and widened, with coxa vara deformity (patients 1 and 2); and grade III, the most severe type (patients 3 and 4), in which the femoral head may not be observed on AP radiographs. Only shortened, triangular, residual femoral neck, high-standing greater trochanter, and marked coxa vara deformity can be noted, which is similar to the absence of femoral head resulting from septic arthritis. Magnetic resonance imaging or arthrogram of the hip may reveal displacement of the cartilaginous femoral head associated with a slipped epiphysis. Acetabular dysplasia may also exist in grades II and III concomitantly. Our classification based on the severity of hip joint deformities advised the choice of surgical procedure.

In multiple epiphyseal dysplasia, radiologic features in the femoral head are similar to Perthes’ disease and spondyloepiphyseal dysplasia. The identification is important because the prognosis and the indication for therapeutic intervention are different. Perthes’ disease shows asymmetric irregularities in the femoral head region and is limited to the hips. Bilateral involvement occurs in approximately 15% of cases.12 Furthermore, both hips are usually in a different stage of this disease. Cystic changes are found not only in the epiphyses of the proximal femur but often in the metaphysis. However, multiple epiphyseal dysplasia shows bilateral symmetric hip involvement and few cystic changes in the proximal femoral epiphyses. Radiographic findings of spondyloepiphyseal dysplasia are characterized by more severe spinal changes than those observed in multiple epiphyseal dysplasia.13 Apart from Perthes’ disease and spondyloepiphyseal dysplasia, pseudoachondroplasia and mucopolysaccharidosis should be considered first in the differential diagnosis, especially when the spine is involved.

Although multiple epiphyseal dysplasia is a congenital disease of childhood that presents with various clinically notable symptoms, such as limp, abnormal gait, and occasional pain, it seldom requires early surgical intervention in the hips. The natural history of hip development in multiple epiphyseal dysplasia is an important guide for proper therapeutic options. Based on radiologic findings of the hips, Treble et al14 classified immature hips into 2 types. A type I hip had a flattened and fragmented ossific nucleus poorly covered by a dysplastic acetabulum. The deformity of the femoral head had been noted at maturity in those hips. A type II hip had a rounder and more uniformly ossified nucleus covered by a more normally shaped acetabulum. In a type II hip, the femoral head was sufficiently strong to prevent the deformation of the ossific nucleus. However, this classification does not include all pathologic types of the hip, such as our classification of grade III. Relatively speaking, the classification of Treble et al14 can guide the surgeon as to whether surgical treatment is needed; however, our classification is more helpful in choosing the correct surgical procedure.

Not all patients with hip deformity need surgical management. For Treble’s type II hips (or our patient 6), conservative treatment should be considered, including control of body weight, avoiding trauma, and minimizing joint stresses in both activities of daily living and sports. However, once severe deformities are present, appropriate surgical intervention is recommended. For our grade II hips, an intertrochanteric extension osteotomy of the femur or Borden’s osteotomy corrects the coxa vara and increases the range of hip abduction. The removal of implants should be performed after closing of the growth plate to avoid the recurrence of angular deformity.

As for grade III hips, no satisfactory outcomes of surgical treatment have been reported. To our knowledge, ours is the first attempt to use the trochanter arthroplasty to correct the most severe deformity of the hip in multiple epiphyseal dysplasia. Intraoperatively, excision of the greater trochanter growth plate is necessary, which can prevent the overgrowth of the greater trochanter postoperatively. In addition, the soft tissue inside the acetabulum should be clean, and the misshapen cartilaginous end of the femur should be shaped into nearly normal contour to accord with the acetabulum. The distal transfer of the greater trochanter eliminates the impingement and increases the effective length of the abductor muscles, which improves the movement of hip abduction and reverses the positive Trendelenburg’s sign.15

Although the current study’s sample is small, the trochanter arthroplasty may be a suitable procedure in the surgical treatment of grade III hips. If acetabular dysplasia exists simultaneously, regardless of the grades of the hip, acetabuloplasty such as Dega osteotomy, Salter pelvic osteotomy,16 Steel triple innominate osteotomy,17 or Staheli acetabular augmentation is recommended to increase the coverage of femoral

References

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  4. Itoh T, Shirahama S, Nakashima E, et al. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. Am J Med Genet A. 2006; 140(12):1280-1284.
  5. Mäkitie O, Mortier GR, Czarny-Ratajczak M, et al. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet A. 2004; 125(3):278-284.
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Authors

Drs Li (Lian Yong), Zhao, Ji, Zhang, and Li (Qi Wei) are from the Department of Pediatric Orthopedics, Shengjing Hospital of China Medical University, Shenyang City, Liaoning Province, China.

Drs Li (Lian Yong), Zhao, Ji, Zhang, and Li (Qi Wei) have no relevant financial relationships to disclose.

Correspondence should be addressed to: Li Jun Zhang, MD, Department of Pediatric Orthopedics, Shengjing Hospital of China Medical University, Shenyang City, 110004, China (franklj@sj-hospital.org).

doi: 10.3928/01477447-20110317-03

10.3928/01477447-20110317-03

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