■ Feature Article

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
Full article available online at ORTHOSuperSite.com. Search: 20110317-03

Multiple epiphyseal dysplasia is a rare congenital osteochondrodysplasia disorder char-

acterized 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
A
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 cor-
rected 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 us- B
ing intertrochanteric extension osteotomy and trochanter arthroplasty. However, because Figure: Preoperative AP radiograph showing that
of the inherent nature of this disorder, long-term follow-up of the patients is required. the bilateral femoral epiphyses are irregular, small,
and fragmented, with a shortened, widened femo-
ral neck. Evident coxa vara deformities are noted
(A). Preoperative AP radiograph showing that the
Drs Li (Lian Yong), Zhao, Ji, Zhang, and Li (Qi Wei) are from the Department of Pediatric Orthope-
bilateral femoral heads are absent and the femoral
dics, Shengjing Hospital of China Medical University, Shenyang City, Liaoning Province, China.
necks are shortening and widening severely, with a
Drs Li (Lian Yong), Zhao, Ji, Zhang, and Li (Qi Wei) have no relevant financial relationships to
high-standing greater trochanter and extreme coxa
disclose.
vara deformity (B).
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

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 MULTIPLE EPIPHYSEAL DYSPLASIA | LI ET AL

M
ultiple epiphyseal dysplasia is seal dysplasia have rarely been described. was not disturbed. Dwarfism was mild.
a congenital osteochondrodys- The purpose of this study was to review 6 No notable abnormalities were found in
plasia disorder first described patients with multiple epiphyseal dyspla- the other systems.
and named by Fairbank in 1947.1 In a sia and to clarify the clinical features and Radiographs demonstrated hypoplas-
Danish study, the prevalence of multiple treatment options of hip joints affected by tic and irregular epiphyses in the involved
epiphyseal dysplasia was 9.0/100,000.2 this disorder in childhood. joints, and the secondary ossification cen-
Wynne-Davies and Gormley3 previ- ters were small and flattened, with poor
ously published a possible prevalence of MATERIALS AND METHODS congruity. In all patients, the fingers and
11/1,000,000. From 1999 to 2004, 6 patients (4 boys, toes were short and thick. Radiographic
Until today, mutations in 6 differ- 2 girls) with multiple epiphyseal dyspla- findings in the spine were almost nor-
ent genes (COMP, MATN3, COL9A1, sia were treated at our institution. Aver- mal. The severity of hip joint deformity
COL9A2, COL9A3, and DTDST) have age patient age was 8.8 years (range, 5-14 ranged from mild to severe and symmetric
been identified in patients with a multiple years). The main reports were of pain in (Table). In patients 5 and 6, the femoral
epiphyseal dysplasia phenotype.4-7 Most the hips or knees and waddling gait associ- head and neck appeared nearly normal, al-
of them follow a dominant mode of in- ated with joint stiffness. The familial form though the epiphyses were mildly irregu-
heritance, although 1 recessive form has was observed in 2 patients from 1 family, lar and decreased in size. In patients 1 and
recently been described. Multiple epiphy- and the other cases were sporadic. Physi- 2, the femoral epiphyses were irregular
seal dysplasia is being detected with in- cal examination demonstrated that all pa- and fragmented evidently, with associated
creasing frequency with the advance of tients had ⬎2 pairs of joints affected. Joint femoral neck shortening, widening, and
genetics. abnormalities included angular deformity, varus deformity (Figure 1A).
The condition is characterized by a de- limited range of motion (ROM), and pain The most severe deformities were seen
lay in the appearance of the epiphyses; ir- (Table). Four patients exhibited duckling in cases 3 and 4. Anteroposterior (AP)
regular, symmetric epiphyseal formation; gait, positive Trendelenburg’s sign, and view of the hip showed an absence of the
mild short stature; and early-onset osteo- limited abduction on the bilateral hips. femoral head; a severely shortened, wid-
arthritis. Peripheral weight-bearing and In patients 3 and 4, severe stiffness (5⬚ of ened femoral neck; and marked coxa vara
nonweight-bearing joints can be affected. abduction and 45⬚ of flexion) in the hips deformity (Figure 1B). Magnetic reso-
The most frequent sites of involvement are was noted, and they had some difficulty nance imaging (MRI) of the hip revealed
the hips and knees. The clinical features of with activities of daily living. One patient that the cartilaginous end of the femur was
multiple epiphyseal dysplasia expressed presented with hip pain due to the devel- enlarged and mushroom shaped, and the
in the knee have been reported.8,9 How- opment of degenerative arthritis. In all slipped epiphysis complicated the coxa
ever, the diagnosis and treatment of hip patients, muscular and facial development vara deformity. The greater trochanter
deformities affected by multiple epiphy- were normal, and intellectual function was high and impinged with the supero-

Table
Physical Examination and Radiographic Findings

Affected Joints
Patient No./
Sex/Age, y Height, cm Hip Knee Ankle Shoulder Elbow Wrist AI, deg NSA, deg ATD, mm AHI, %
1/M/7a 115 Yes Yes No No Yes No 18 102 4 n/a
a
2/M/7 112 Yes Yes No No Yes No 19 95 1 n/a
3/M/5 96 Yes No No Yes Yes Yes 32 n/a ⫺11 n/a
4/F/12 123 Yes No Yes No No Yes 49b n/a ⫺9 n/a
5/M/14 162 Yes Yes Yes No No Yes 50b 136 21 55
6/F/8 107 Yes Yes Yes Yes No No 22 141 18 100
Abbreviations: AHI, acetabular head index; AI, acetabular index; ATD, articulotrochanteric distance; deg, degree; n/a, not available; NSA, neck-
shaft angle.
a
Patients 1 and 2 are twins.
b
Sharp angle.

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 ■ Feature Article

1A 1B 1C
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).

lateral acetabular edge (Figure 1C). Pa-

tients 3, 4, and 5 had significant changes
at the acetabulum consisting of a shallow,
irregular acetabular roof and increased ac-
etabular index.
Surgical procedures included inter-
trochanteric extension osteotomy of the
femur in patients 1 and 2, Staheli ac-
etabular augmentation in patient 5, and
trochanter arthroplasty associated with
Dega osteotomy in patients 3 and 4 (Fig- 2A 2B
ure 2). One patient with mild changes in
Figure 2: Diagram of trochanter arthroplasty. The misshapen cartilaginous end of the femur is shaped into
the hips did not undergo surgical treat- nearly normal contours to accord with the acetabulum. The shaded parts represent the areas that need to
ment. All patients were subsequently fol- be excised. The epiphyseal plate area of the greater trochanter should be resected completely to prevent
lowed up for an average 7.2 years (range, 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).
6-9.5 years).

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 3A 3B
95⬚ of flexion and 55⬚ of abduction. Both Figure 3: Radiograph of the left hip of patient 2 five years after intertrochanteric extension osteotomy of the
had a negative Trendelenburg’s sign and 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).
mild residual waddling gait, but had no
difficulties with activities of daily liv-
ing. Radiographs revealed a neck-shaft (Figure 3B). In patient 5, although there completely by the acetabulum, with an
angle of 142⬚, with good congruity be- was mild pain in the hips with overactiv- acetabular head index of 100%. Patient
tween the acetabulum and femoral head ity, the femoral head had been contained 6 did not undergo surgical treatment be-

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 MULTIPLE EPIPHYSEAL DYSPLASIA | LI ET AL

cause the changes in the hips were mild, coxa vara deformity (patients 1 and 2); The natural history of hip development in
and no obvious clinical abnormalities and grade III, the most severe type (pa- multiple epiphyseal dysplasia is an impor-
noted at final follow-up. tients 3 and 4), in which the femoral head tant guide for proper therapeutic options.
may not be observed on AP radiographs. Based on radiologic findings of the hips,
DISCUSSION Only shortened, triangular, residual femo- Treble et al14 classified immature hips into
Multiple epiphyseal dysplasia can be ral neck, high-standing greater trochanter, 2 types. A type I hip had a flattened and
diagnosed in early childhood and affects and marked coxa vara deformity can be fragmented ossific nucleus poorly covered
almost all epiphyses. Osseous involve- noted, which is similar to the absence of by a dysplastic acetabulum. The deformi-
ment is bilateral and symmetric. Many femoral head resulting from septic arthri- ty of the femoral head had been noted at
patients can belong to 1 family, but con- tis. Magnetic resonance imaging or arthro- maturity in those hips. A type II hip had a
siderable variation may exist in the sever- gram of the hip may reveal displacement rounder and more uniformly ossified nu-
ity of the disease among family members. of the cartilaginous femoral head associ- cleus covered by a more normally shaped
Although molecular test is important for ated with a slipped epiphysis. Acetabular acetabulum. In a type II hip, the femoral
the diagnosis of multiple epiphyseal dys- dysplasia may also exist in grades II and head was sufficiently strong to prevent the
plasia, it is almost impossible for all pa- III concomitantly. Our classification based deformation of the ossific nucleus. How-
tients because of the diversity of suscep- on the severity of hip joint deformities ad- ever, this classification does not include
tive genes. Therefore, the diagnosis of this vised the choice of surgical procedure. all pathologic types of the hip, such as
disorder mainly depends on clinical and In multiple epiphyseal dysplasia, ra- our classification of grade III. Relatively
radiographic findings. Eguchi’s criteria is diologic features in the femoral head are speaking, the classification of Treble et
widely used in clinic, in which multiple similar to Perthes’ disease and spondylo- al14 can guide the surgeon as to whether
epiphyseal dysplasia is diagnosed radio- epiphyseal dysplasia. The identification is surgical treatment is needed; however, our
graphically when abnormalities are ob- important because the prognosis and the classification is more helpful in choosing
served in multiple epiphyses of ⬎2 paired indication for therapeutic intervention are the correct surgical procedure.
joints, with almost normal findings in the different. Perthes’ disease shows asymmet- Not all patients with hip deformity
spine and facial appearance.10 All patients ric irregularities in the femoral head region need surgical management. For Treble’s
in current study met the above criteria. and is limited to the hips. Bilateral involve- type II hips (or our patient 6), conserva-
The most frequent sites of involve- ment occurs in approximately 15% of tive treatment should be considered, in-
ment are the lower limbs’ weight-bearing cases.12 Furthermore, both hips are usually cluding control of body weight, avoiding
bones. The frequency of hips being af- in a different stage of this disease. Cystic trauma, and minimizing joint stresses in
fected is approximately 97% to 100%.8,11 changes are found not only in the epiphy- both activities of daily living and sports.
Multiple epiphyseal dysplasia expressed ses of the proximal femur but often in the However, once severe deformities are
in the hip has a wide spectrum of joint de- metaphysis. However, multiple epiphyseal present, appropriate surgical intervention
formity from mild to severe and exhibits a dysplasia shows bilateral symmetric hip is recommended. For our grade II hips, an
chronic disease process. In some cases (as involvement and few cystic changes in the intertrochanteric extension osteotomy of
in patients 5 and 6), the deformity in the proximal femoral epiphyses. Radiographic the femur or Borden’s osteotomy corrects
hip is difficult to diagnose until the patient findings of spondyloepiphyseal dysplasia the coxa vara and increases the range of
reports pain due to the development of os- are characterized by more severe spinal hip abduction. The removal of implants
teoarthritis or other abnormalities, such as changes than those observed in multiple should be performed after closing of the
joint stiffness or gait disturbance. epiphyseal dysplasia.13 Apart from Perthes’ growth plate to avoid the recurrence of an-
Based on the radiographic findings of disease and spondyloepiphyseal dysplasia, gular deformity.
our patients and a review of the literature, pseudoachondroplasia and mucopolysac- As for grade III hips, no satisfactory
we classified the primary defects in mul- charidosis should be considered first in the outcomes of surgical treatment have been
tiple epiphyseal dysplasia expressed in differential diagnosis, especially when the reported. To our knowledge, ours is the first
the hip into 3 groups: grade I, the proxi- spine is involved. attempt to use the trochanter arthroplasty
mal femoral epiphysis is mildly irregular, Although multiple epiphyseal dyspla- to correct the most severe deformity of the
with a normal (patient 6) or hypoplastic sia is a congenital disease of childhood that hip in multiple epiphyseal dysplasia. In-
acetabulum (patient 5); grade II, the femo- presents with various clinically notable traoperatively, excision of the greater tro-
ral epiphysis was irregular, flattened, and symptoms, such as limp, abnormal gait, chanter growth plate is necessary, which
fragmented evidently and the femoral and occasional pain, it seldom requires can prevent the overgrowth of the greater
neck was shortened and widened, with early surgical intervention in the hips. trochanter postoperatively. In addition, the

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 ■ Feature Article

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