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
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 Trendelenburgs 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 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
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 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 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).
No intraoperative complications were observed. At final
follow-up, patients 1 and 2 exhibited almost normal gait and reversed
Trendelenburgs 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
Trendelenburgs 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 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).
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. Eguchis 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
Not all patients with hip deformity need surgical
management. For Trebles 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 Bordens 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
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
Although the current studys 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
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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 (firstname.lastname@example.org).