Hip International / Vol. 17 no. 2 (suppl 5), 2007 / pp.

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Wichtig Editore, 2007

Etiology of developmental hip dysplasia or dislocation: review article

G. KOUREAS, P. WICART, R. SERINGE
Department of Paediatric Surgery, Saint-Vincent-de-Paul Hospital (APHP), Paris - France

ABSTRACT: There is no consensus in the literature regarding the impact of several, so-called, etiological factors in the appearance of developmental dysplasia or dislocation of the hip (DDH). Furthermore, the mechanism explaining the appearance of a dislocated or subluxated hip in the perinatal period is not well defined. The latter explains, as well, the different terms used to describe the same clinical entity. Terms like congenital dislocation of the hip (CDH), developmental dysplasia/dislocation of the hip or teratological dislocation of the hip are usually applied for the description of the same condition. Constitutional and mechanical disorders are accused of encouraging the evolution of an antenatal or neonatal hip towards instability, subluxation or even dislocation. An understanding of the predisposing factors as well as the natural history is essential in order to prevent and/or treat them effectively as well as to decide on the most appropriate nomenclature. A review of the multiple published theories affirms that the determining predisposing factors for hip dislocation or subluxation are mechanical and are associated with intra-uterine posture in full hip flexion, adduction and external femoral rotation together with abnormal pressure on the greater trochanter tending to expel the femoral head in a supero-posterior direction relative to the acetabulum. The role of genetic factors is secondary, but present, and can influence the natural history of a patient if the primary mechanical and postural factors are not inhibited. (Hip International 2007; 17 (suppl 5): S1-7) KEY WORDS: Developmental dysplasia of the hip, Congenital dislocation of the hip, Etiology

INTRODUCTION
Many etiological factors have been suspected as the cause of developmental dysplasia of the hip (DDH) or congenital dislocation, subluxation and dysplasia of the hip (CDH). Those factors are not accepted by all specialists. As a result, confusion is arising concerning not only the causes of DDH, but also the terminology applied to describe this condition. Understanding the factors responsible for normal growth and development of the hip joint together with the pathoanatomy of this condition make it possible to de-

velop the most credible theory regarding developmental dysplasia/dislocation of the hip, and facilitates orthopedic surgeons in finding the best preventive measures as well as the ideal treatment options.

NORMAL GROWTH OF THE HIP JOINT

In the normal embryo the femoral head and acetabulum develop from the same primitive mesenchymal cells. By the 7th week of gestation, a cleft appears in the precartilage

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cells defining the femoral head and the acetabulum. The differentiation of the primitive chondroblasts leads to the formation of the femur. At eleven weeks the femoral head is fully formed with a spherical configuration, a short neck and a primitive greater trochanter. With continuous development of the labrum, the femoral head becomes deeply seated in the acetabulum and is held by the surface tension of the synovial fluid. The post-natal acetabular cartilage complex is a unit that is triradiated medially and cup-shaped laterally. The interstitial growth within the triradiated part of the cartilage complex causes the hip socket to expand during growth, and the concavity of the acetabulum develops in response to the presence of the spherical femoral head (1). In post-mortem specimens, even after the capsule is sectioned, it is not easy to dislocate a normal infants hip. In developmental hip dysplasia or dislocation, however, this tight fit is lost and the femoral head can glide in and out of the acetabulum (2).

A report from Skirving and Scadden (7), claims that the acetabulum of black Africans seems to be deeper than that of white races. Thus, one can explain the lower frequency of dislocation in this population: 0.49% in blacks compared to 1.53% in whites (8). This dysmorphy, (Greek term meaning altered anatomical appearance), should be interpreted as a variation of the physiological three-dimensional morphology of the acetabulum, does not provide absolute immunity to the black population against congenital hip dislocation and thus it is not a determining factor.

Acetabular dysplasia
Several factors determine the acetabular depth according to Weinstein et al (2): a) interstitial growth within the acetabular cartilage, b) appositional growth under the perichondrium and c) growth of adjacent bones. The acetabular shape is determined in most cases by the age of eight years. Acetabular depth is further enhanced during the adolescence growth spurt by the development of secondary ossification centers of which there are three: the acetabular epiphysis (secondary ossification center of the ilium), the os acetabulum (secondary ossification center of the pubis) and a third unnamed secondary ossification center of the ischium. Surgical interventions at the periphery of the acetabulum in the area of groove of Ranvier or in the area of secondary ossification centers have a great potential to cause growth disturbances leading to hip dysplasia. Teot and Deschamps studies on fetal ultrasonography (9, 10) are in favour of a mechanical origin for the acetabular dysplasia transmitting forces through the femoral head in the postero-superior quadrant of the acetabulum. They believe that the acetabular dysplasia is the result of the dislocation or subluxation and not vice versa. Furthermore the acetabular dysplasia is reversible if the femoral head is replaced again into the acetabular cavity during infancy (11, 12). Recovery of the dysplastic acetabulum is more uncertain if the dislocation has not been reduced after walking age (13).

POTENTIAL ETIOLOGICAL FACTORS LEADING TO CDH

It is generally agreed that DDH or CDH generates either from constitutional/endogenous alterations either from mechanical/exogenous forces applied to the hip or from a combination of the above mentioned causes.

Constitutional alterations
Genetic influence
Genetic influence certainly has an impact. Thus, the higher frequency of dislocations in females, the geographical distribution and ethnic predisposition as well as the positive family history can be explained (3, 4). According to Stalder and Jani (5) it is possible to calculate the genetic risk for CDH. They reported that the risk for CDH appearance after the birth of a boy suffering from CDH is on the order of 10%, while after a girl is affected the risk is on the order of 3%. When one of the parents is affected the risk for the first child is 5% (5). Genetic influence cannot be considered as the most important factor according to Fuhrmann and Vogel for the appearance of CDH, but it does constitute a risk factor (6). Carter and Wilkinson (4) found that in twins when one of the two presents with hip dislocation the other one is affected in 40% of cases if the twins are monozygous and in 3% if they are dizygous.

Femoral anteversion
Studies carried out by Seringe and Kharrat demonstrated that the excessive femoral anteversion, situated not in the femoral neck but rather in the femoral shaft due to excessive femoral shaft external torsion, is not constant (14). A more recent study by Sugano et al in thirty five femora of

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Fig. 1 - The three dislocating postures according to Seringe: A) a position with knee extended or even hyperextended with lateral rotation of the lower limb; B) a semiflexion knee position but always with the lower limb in lateral rotation and finally C) full knee flexion with neutral lower limb rotation but with an excessive femoral anteversion (equivalent to external femoral rotation).

thirty one patients demonstrated that the femora with developmental dysplasia of the hip had 10-14 more anteversion than the control group (15). We do consider that the excessive femoral anteversion probably plays a role in hip dislocation because it represents the equivalent of an external femoral rotation.

Mechanical factors
Abnormal forces can be transmitted to the femoral head and consequently to the joint capsule and acetabulum during intra-uterine or post-natal life but also during labor delivery. Caesarean sections, excessive birth weight, co-existent knees or feet deformities, torticolis, oligodramnios and foeto-pelvic disproportion are all arguments in favour of the mechanical or postural congenital theory for CDH development (21, 22).

Joint laxity
According to previously published data, joint laxity can result either from a connective tissue disorder like EhlersDanlos syndrome or from hormonal imbalance (relaxin concentration, sex hormones). Uden and Lindhagen (16) reported that the frequency of inguinal hernia in children presenting with a CDH is five times higher in boys. This is an argument in favour of connective tissue disorder. In a study conducted by Sponeller et al in 235 patients with Marfan syndrome only 2% were suffering from developmental hip dysplasia. In his series, stability was achieved in all patients without redislocation after treatment by closed reduction and spica (17). On the other hand, the theory of joint laxity of hormonal origin is not accepted by all authors (18, 19) even though most of them admit that hip dislocation can be facilitated by injection of sex hormones (20).

Intra-uterine period
Seringe et al (23) have showed that, in an unstable hip in a newborn, external femoral rotation combined with full hip flexion dislocates the hip posteriorly. On the contrary, internal rotation allows reduction of the femoral head whatever the degree of hip flexion. Seringe et al (23) identified three dislocating postures in children with CDH (Fig. 1): a) a position with knee extended or even hyperextended with lateral rotation of the lower limb; b) a semi-flexion knee position but always with the lower limb in lateral rotation and finally; c) full knee flexion with neutral lower limb rotation but with

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Fig. 2 - A) The external rotation of the lower limb, in full flexion, produces posterior dislocation of the femoral head relative to the acetabular cavity. B) When the lower limb is in neutral rotation then the femoral head is centred into the acetabular cavity.

an excessive femoral anteversion (equivalent to external femoral rotation). A dynamic study of instability on anatomical specimens conducted by Seringe and Kharrat (14) confirmed the concept of ftal dislocating posture with slight or neutral abduction or even adduction, lateral rotation or excessive anteversion. (Fig. 2 A and B). Wilkinson (24) underlined the impact of external rotation of the lower limb in the appearance of CDH after experimental animal studies. He considered it a prime factor in the aetiology of CDH. Furthermore, Seringe and Kharrat (14) excluded the hamstrings muscles contraction as the cause of CDH in breech presentation because they always found them hypotonic and relaxed. Rega and Sanctis in 1989 concluded after an experimental animal study that the role of adductors in inducing subluxation or dislocation is certainly more relevant than that played by hamstrings (25) This study is opposed to Suzuki et al (20) and Yamamuro et al (26) whose theory for CDH considered that hip dislocation is caused by the combined action of iliopsoas and hamstring muscles. They believe that those muscles are in tension in the breech position when the knees are extended.

Delivery period
The normal hip of a newborn is perfectly stable and one cannot blame manual traction on the lower limb during delivery as a cause of a CDH. An effort to dislocate the hip will result in a proximal femoral epiphysiolysis or in a femoral shaft fracture (27, 28). However, if a continuous pressure is exerted on the femoral head for three to six hours in a direction toward dislocation then dislocation can occur (29).

Post-natal period
Many authors revealed the negative influence of swaddling with the hips and knees in extension (30-32). The mechanism of dislocation after the previous described traditional swaddling is either the lengthened application of a direct force expulsing the femoral head out of the acetabular cavity or the inhibition of acetabular remodelling that, for some reason, becomes dysplastic during the ante-natal period which would have, probably, progressed positively if a correct posture had been maintained.

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PATHOGENESIS ACCORDING TO THE MECHANICAL THEORY

We strongly believe that the constitutional factors (genetics, bone dysmorphy, mesenchymal soft tissue alterations) could predispose to dislocation, but are not determining factors. That is why patients with joint laxity like in EhlersDanlos or Marfan syndrome do not constantly present with a hip dislocation. The mechanical theory seems more appropriate in order to explain this condition. According to this theory the hip tends to dislocate because of the posture of the femur (full hip flexion combined with external femoral rotation and/or hip adduction) or because the forces applied on it (action of spastic muscle or on the contrary paralytic conditions) direct the femoral head out of the acetabular cavity. Additionally, in 1929 Chandler (33) introduced the hypothesis that in many cases, dislocation is related to pressure on the greater trochanter from the contact with the narrow upper part of the maternal pelvis in breech presentation, or the contact with the maternal lumbar spine in cephalic presentation (Fig. 3). This hypothesis explains why in breech presentation the CDH is often bilateral with a frequency of about 20%-25% while in cephalic presentation it is usually unilateral.

Fig. 3 - Pressure on the greater trochanter from the contact with the narrow upper part of the maternal pelvis in breech presentation, or the contact with the maternal lumbar spine in cephalic presentation produces dislocation.

TERMINOLOGY
There is no consensus between authors not only for the etiology but also for the nomenclature that should be used to describe this condition. Historically the term congenital dislocation of the hip exists in the Anglo-Saxon literature before 1990. It was in 1989 when Klisic (34) proposed the use of the term developmental displacement of the hip because he thought that congenital dislocation of the hip was not always congenital nor always luxation. Furthermore, many authors are using the term dysplasia instead of dislocation (35) adding to the confusion. According to Seringe et al (36) the term CDH should be retained because it means an antenatal displacement of the femoral head relative to the acetabular cavity. He believes that cases discovered late should be considered as failures of detection arising from inadequate muscular relaxation, not repeated clinical examination, and lack of knowledge of certain clinical signs such as telescoping, instability without a jerk sign, hypertonic adductors, or congenital pelvic obliquity (36).

Additionally, a report by Mladenov et al (37) claims that spontaneous evolution of acetabular dysplasia towards improvement, in stable hips is very common. The latter signifies that the acetabular dysplasia took place during the antenatal period and resolved once the factors present during that period were suspended. According to Yamamuro (38) the term of developmental dysplasia of the hip is the more appropriate nomenclature for several reasons: First, when assessing neonates, teratologic dislocation, a distinct clinical entity, must be excluded. According to Michele (39) the term teratologic dislocation refers to the condition where the acetabulum is shallow and rudimentary at birth, and a secondary acetabulum is formed by a markedly deformed and migrated femoral head which is accompanied by other multiple anomalies. Those cases can be clearly differentiated from CDH or DDH by gene diagnosis, and thus should be excluded from the debate about suitable nomenclature. Yamamuro (38) believes that the so-called CDH is not

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caused by a single gene, but by multiple genetic factors, as suggested by female dominance in incidence and familial occurrence. Multigenetic diseases depend on certain environmental factors (mechanical or others). This hip disorder can develop when certain environmental factors are present, but can also recede without further treatment after elimination of those same factors at an early developmental stage. On the other hand, the so-called DDH reflects the influence of multigenic and environmental factors during perinatal period and not only during the antenatal phase as the term CDH suggests.

hip because the prognosis is more favourable for the first one if proper treatment is applied. The term congenital should, probably, not be retained because it signifies that only genetic and intrauterine mechanical factors influence the appearance of hip dysplasia or dislocation. The term developmental seems to be the proper one since it is proven that if certain conditions subsist after birth, hip dysplasia can progress towards aggravation if treatment is not applied or on the contrary towards recovery. In other words the term developmental suggests what is really occurring, a potential for evolution of this condition during growth.

CONCLUSION
A nomenclature respecting the most probable etiological theory as well as the anatomic appearance should be applied. This nomenclature should be in accordance with the natural history of its condition in order to have a predictive value. Developmental dysplasia of the hip should not be confused with the term developmental dislocation of the

Address for correspondence: Georgios Koureas Hpital Saint-Vincent de Paul 74-82 Avenue Denfert-Rochereau 75674 Paris Cedex 14, France e-mail: gkoureas@yahoo.com

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