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Childrens Orthopaedics:
Normal development and Congenital disorders
DAVID H.A. JONES and ROBERT A. HILL
Introduction
Childrens orthopaedics is different from its adult counterpart because growth is still
taking place. This can work for or against the child and surgeon. On the positive side
there are great powers of remodelling and recovery (Fig. 27.1). Conversely, a growth
plate injury or congenital shortening of a limb will produce progressive deformity
(Fig. 27.2).
The understanding of childrens orthopaedics is helped by a knowledge of its
terminology (Table 27.1 gives examples).
Many orthopaedic conditions are congenital, i.e. present at birth. Some are
immediately obvious, for example the absence of a limb; others such as cerebral palsy
or developmental dysplasia of the hip may not be clinically detectable at birth hut
declare themselves later. In addition, some acquired conditions arise against a
background of genetic susceptibility, for example immune deficiency predisposing to
infection. Finally, children present great variation within the spectrum of normality
(e.g. gait pattern), while others have conditions such as postural abnormalities which
are self-limiting. These may cause great concern to a family. Clinical assessment and
explanation must be just as thorough as for a child with an obviously severe
condition.
Figure 27.3 presents a helpful system for treating orthopaedic conditions in childhood.
The term orthopaedics (straight child) originally referred to correction of deformity
in children. The speciality generally has expanded beyond all recognition and this
includes shortening.
childrens orthopaedics. Not only has deformity to be addressed, often with
sophisticated technology for investigation and treatment, but the childrens
orthopaedic surgeon is concerned with a much wider range of musculoskeletal
disease, along with closer involvement in the general care of the child in the
community. The role of the orthopaedic surgeon may be primary or secondary,
according to the overall needs of the child.
Normal variants and self-limiting conditions
The range of normality in the development of the musculoskeletal system is wide
(Table 27.2). At all ages the appearance of a childs limbs or spine includes the
components of rotation, angulation and joint laxity. When these are added to the
natural clumsiness of a developing youngster it is notsurprising that parents may be
concerned whether their offspring is normal. Therefore, all consultations must be
thorough and sympathetic.
Common reasons for referral are intoeing, bow legs (Fig. 27.4), knock-knees and flat
feet (Fig. 27.5). None can be judged in isolation. For example, intoeing (foot
progression angle) is the result of the various torsional and angulation components
within the femur, tibia and foot.
For example, the child in Fig. 27.6 is normal. The condition is symmetrical and
symptomless, the joints are supple and there is no evidence of skeletal dysplasia or
systemic disease such as neurological or metabolic condition.
Conversely, the child in Fig. 27.7 is abnormal. There is asymmetry and evidence of a
systemic disorder (rickets).
Self-limiting conditions (Table 27.3) are outside the definition of normal variance
because they do not fulfil the five Ss rule. They include postural deformities such as
calcaneo valgus (Fig. 27.8), moulded baby syndrome (plagiocephaly, infantile
scoliosis, tight hip adductors), metatarsus varus (Fig. 27.9) and growing pains.
Asymmetry, stiffness and symptoms may be present. The conditions usually correct
spontaneously or with minimal treatment such as stretching exercises.
Congenital disorders
These may be intrinsic malformations within a developing structure (e.g. limb
deficiency) (Fig. 27.2), or the result of extrinsic influences, for example postural (Fig.
27.8), neuromuscular (Fig. 27.10) or a malformation elsewhere (Fig. 27.11).
Regularly, however, we do not know why a congenital abnormality (e.g. talipes
equino varus) has occurred.
Nowadays, diagnostic ultrasound can detect musculoskeletal abnormalities in utero.
This technology is creating both opportunities and difficulties in the management of
an unborn child. Whatever the cause, a significant abnormality diagnosed prenatally
or at birth can be devastating to a family. Support and advice from a wide range of
experts may be required.
Malformations of the limbs and spine
Musculoskeletal structures develop alongside other body systems. By the 12th week
of intrauterine life the spine and limbs are formed, the upper limbs slightly ahead of
the lower. Examples of how embryological structures can stray from the path of
normal development are shown in Table 27.4.
Because the various organs are developing concurrently, the causes of malformation
may affect more than one system. Therefore, when presented with a limb anomaly one
should
consider associated abnormalities in, for example, the cardiovascular, urogenital or
nervous system.
However, in most cases the children are usually otherwise normal and develop and
function well. They are regularly well motivated and do not admit to any disability in
spite of obvious physical abnormality. These aspects have to be understood when
considering treatment.
In the majority of cases there is no obvious cause, such as thalidomide. Occasionally a
genetic (especially in skeletal dysplasia) or syndromic association [e.g.
thrombocytopenia, absent radius (TAR syndrome)] is possible.
Congenital malformations
Failure of formation
These cases may present as multiple complex abnormalities (Fig. 27.12) or fit
recognisable patterns of deformity (Fig. 27.13). The defects may be classified as
transverse [e.g. con genital amputation through a limb) or longitudinal (e.g. femoral
deficiency (Fig. 27.13) or radial club hand (Fig. 27.14)]. A longitudinal deficiency
may be florid [e.g. tibial dysplasia (Fig. 27.15)] or subtle [e.g. congenital
pseudarthrosis of the tibia (Fig. 27.16)]. The limb beyond the defect may be normal
(Fig. 27.17) or abnormal (Fig. 27.2).
Femoral deficiency. This ranges in severity from a short femur to total absence.
Treatment varies accordingly.
A short femur may be amenable to lengthening. The commonly associated coxa vara
may require correction beforehand by valgus osteotomy.
More profound degrees are beyond the limits of surgical leg equalisation. However,
children usually function well in an extension prosthesis (Fig. 27.18). Indeed, there is
a debate whether a child with a congenitally short limb is better served by complex
leg equalisation surgery with its regular complications and joint stiffness or by early
mobilisation in an extension prosthesis.
Fibular deficiency (Fig 27.2 and Fig 27.17). In this condition the tibia is short and
bowed anteriorly, often with an overlying skin dimple. The fibula is wholly or partly
absent. The foot is in equino valgus and commonly shows deficiency of the outer
rays. The condition also affects the whole limb. There is mild femoral shortening and
genu valgum and often the cruciate ligaments are absent.
Treatment is dominated by the overall predicted shortening and the state of the foot. A
child with marked shortening and a deformed residual foot is best served by a Symes
amputation at about 1 year. If the foot is normal, it is reasonable to consider correction
of the equino valgus deformity and equalisation of leg lengths. This may require a
combination of lengthening of the affected tibia and a shortening procedure, for
example epiphysiodesis on the normal side.
Tibial deficiency (Fig. 27.15). The tibia is wholly or partially absent. The foot is in
equino varus and, in contrast to fibular deficiency, may be augmented (e.g.
polydactyly or diplopodia).
Reconstruction of the foot is usually unsuccessful except in mild cases. If the tibia is
absent a through the knee
amputation is indicated. If there is a tibial remnant a good option is to fuse the fibula
with this and fit the child with an extension prosthesis. It is thereafter usually
preferable to amputate the foot to allow better fitting of the prosthesis.
Congenital pseudoarthrosis of the tibia (Fig. 27.16). This is a subtle longitudinal
defect causing anterolateral bowing in the lower tibia. The condition may be
associated with neurofibromatosis or fibrous dysplasia. The deformity regularly
progresses to a beastly fracture for which treatment is difficult and prolonged. The
whole armamentarium of the fracture surgeon can be involved including
intramedullary fixation, traditional and advanced grafting techniques (e.g.
vascularised fibular graft and the Ilizarov method). Even then the pseudoarthrosis may
not heal and amputation becomes inevitable in a minority of cases. The
prepseudoarthrosis and the treated pseudoarthrosis should be braced until skeletal
maturity.
Congenital pseudoarthrosis of the clavicle (Fig. 27.19). This defect of the midshaft of
the clavicle is probably related to the development of the subclavian artery as it occurs
on the right side unless there is dextrocardia.
The main problem is cosmetic, although there may be discomfort. If treatment is
undertaken the options include excision of the defect with repair of its periosteal
sleeve or fixation and grafting.
Infantile coxa vara. There is a defect of ossification in the femoral neck, leading to a
varus deformity usually requiring corrective osteotomy.
Failure of separation
Syndactyly (fingers and toes) (Fig. 27.20). Three types are described, simple (soft
tissue only), complex (bones involved) and acrosyndactyly (digits joined at their tips).
Syndactyly as a regular component of syndromic conditions (e.g. Aperts syndrome,
constriction ring). Where possible fingers should be separated, although the
techniques are demanding and involve flaps and skin grafting. Separation of toes is
rarely indicated.
Radioulnar synostosis. The fused radius and ulna are shorter than their counterparts.
Abduction of the shoulder effectively mimics pronation. Therefore, a forearm fixed in
neutral rotation or slight supination can be compensated by the shoulder and this
allows virtually normal hand function. A forearm fixed in pronation cannot be thus
compensated and in such cases a rotation osteotomy to bring the hand to the neutral or
slightly supinated position may be indicated.
Tarsal coalition. The usual patterns are calcaneonavicular (Fig. 27.21) or talocalcaneal
fusions by cartilaginous or bony bars. There may be pain as well as stiffness,
particularly in eversion, and the condition is also known as peroneal spastic flat foot.
There may be an associated ball and socket ankle joint. The calcaneonavicular bar can
be demonstrated by plain radiographs, whereas computerised tomography (CT) best
visualises the talocalcaneal bar. If conservative measures (e.g. analgesics, orthotics)
fail, excision of the bar may be indicated. If degenerative changes ensue, arthrodesis
may ultimately be required.
Vertebral and scapular anomalies. Vertebrae and ribs may be fused with resultant
scoliosis and/or chest wall deformity. Regularly, there are associated abnormalities
within the spinal column (e.g. diastomatomyelia) and elsewhere (e.g. urogenital and
cardiac systems).
KlippelFeil syndrome. This comprises multiple congenital abnormalities in the
cervical spine leading to a characteristic short, stiff neck and a low hairline.
Torticollis, facial asymmetry and webbing of the neck may be apparent.
Sprengel shoulder. This is due to a failure of normal descent of the scapula which
remains high and small (Fig. 27.22). There may be a bony tether, the omovertebral
bar, between scapula and spine, which is also prone to anomalies.
Treatment is largely for cosmetic reasons. Excision of the superomedial portion or
displacement osteotomy of the scapula is a better option than attempts to reposition
the whole bone.
Gigantism
A whole limb (Fig. 27.23) or part (Fig. 27.24) can be affected. The condition may be
idiopathic or associated with neurofibromatous or a vascular malformation. The
gigantic part is distressing for the child and family. Procedures such as debulking and
growth arrest are usually unsuccessful. The best results are from amputation, where
this is a realistic option.
Polydactyly
Extra digits can be an isolated abnormality, part of a pattern of limb malformation
(e.g. tibial deficiency with diplopodia) or syndromic, as in chondroectodermal
dysplasia (Ellisvan Creveld syndrome) which consists of short-limbed dwarfism,
dysplastic nails, hair and teeth, polydactyly and congenital heart disease.
Extra digits usually requite removal. It is sometimes difficult to know which digit to
sacrifice (Fig. 27.25).
Skeletal dysplasias
These generalised disorders of the skeleton are often genetically determined. They
may affect the whole or part of a bone. In some, for example osteogenesis imperfecta,
the condition is a generalised disorder affecting connective tissue.
They characteristically produce skeletal deformities and abnormal stature. Although
uncommon, they pose complicated problems in management. Their detailed
description is out with the scope of this book but it is possible to summarise them
along with suitable examples.
They can be categorised into major groups shown in Table 27.5.
The diagnosis is from clinical data, especially comparing the patients measurements
with standard growth charts, radiographs (typically a skeletal survey) and further tests
(e.g. biochemical). In some cases the diagnosis can be made by ultrasound.
Osteogenesis imperfecta (OI). This relatively common dysplasia (incidence 1:20 000
births) is caused generally by an abnormality of collagen type I and thereby all
connective tissues are involved. The joints are loose, bones bend and break, teeth can
be abnormal (dentinogenesis imperfecta, DI) and there may be neurological and
gastrointestinal problems. The care of these children as with many other dysplasias
becomes multidisciplinary. In severe types the children are unable to walk through
weakness and deformity. Other methods of locomotion must be used (e.g. bottom
shuffling, crutches, wheelchairs).
Four broad types of OI are described but it is not always possible to thus classify a
patient.
Type 1(a) the classic form; blue sclerae, autosomal dominant inheritance and the
mildest clinically. Children and adults can be reasonably active with precautions. A
neurological problem is premature deafness.
Type II lethal perinatal form.
Type III (Fig. 27.26) severe deforming type. Autosomal recessive. Multiple
fractures. The children rarely achieve walking. DI is common.
Type IV as for type I but the children are less active and the sclerae are normal.
DI is common.
The diagnosis of 01 is usually possible from clinical data and radiographs. These can
show classical appearances in the limbs, spine and skull (osteopenia, deformities,
vertebral collapse and Wormian bones in the skull). However, there are borderline
cases which pose great difficulties, especially if the differential diagnosis includes
nonaccidental injury. There is yet no test which will unequivocally confirm the
diagnosis of 01.
Treatment depends on the individual and the severity of the condition. Any advice
must be given within the context of what goals are achievable.
Much can be done through occupational therapy, orthotics, seating and general
paediatric care.
The orthopaedic surgeon can help with deformity correction and intramedullary
stabilisation of long bones using rods or wires. These can prevent recurrent fractures
and help those children who are strong enough to stand and walk.
The value of treatments to increase bone strength (e.g. bisphosphonates) remains
unproven.
Osteopetrosis. The bones are dense, hard and brittle. The milder tarda form is
autosomal dominant; the severe congenital type is recessive.
Death may occur from lack of bone marrow. Distortion of the orbits may cause
blindness. Bone marrow transplantation can be successful.
If fractures need fixation, special instruments are needed to overcome the hard bone.
Hereditary multiple exostoses (diaphyseal aclasis) (Fig. 27.27). This is a relatively
common, autosomal dominant dysplasia. Cartilaginous-capped exostoses occur at the
metaphysis and the osteochondromas grow with the child and stop growing at
maturity. The lumps may cause mechanical or cosmetic problems which justify their
removal. There may be differential growth disturbances in the forearm or leg leading
to ankle, wrist and elbow deformities. Distortion of growth plates may cause, for
example, genum valgum. All of these deformities may require surgical correction.
Aetiology
Many factors are related to DDH (Table 27.6). A family history of DDH increases the
risk up to 30 times. The condition is five times more common in girls, possibly related
to hormonal factors producing joint laxity. The left side is affected more commonly
than the right.
Breech presentation, especially the extended position, firstborn children and caesarean
section are associated with increased neonatal instability, possibly through restricted
foetal movement.
A foot deformity or torticollis should also alert the examiner to possible associated
DDH. Finally, there may be hip dislocation or dysplasia in association with
neuromuscular disease syndromic conditions and skeletal dysplasia.
Diagnosis
Neonate. The clinical examination is only part of the general examination. All
newborn babies should be screened for hip instability by a skilled examiner using the
Barlow and Ortolani tests (Fig. 27.31). The baby should be relaxed and the hips
flexed to 90degreeIt is possible to reduce a dislocated hip by abduction and gentle
forward pressure (Ortolani) or dislocate an unstable hip by adduction and gentle
backward pressure (Barlow). In both cases a soft clunk is felt as the hip reduces or
dislocates.
The specificity of clinical neonatal examination is 100 per cent (no false positives).
However, its sensitivity is much lower; even skilled examiners are unable to eliminate
late diagnosed cases.
Ultrasonographyis a valuable test. It is more sensitive than clinical examination and
can detect not only displacement of the femoral head but also varying degrees of
dysplasia. Therein lies its weakness for it tends to over diagnose the condition and
thus subject babies to unnecessary treatment. Also, it is very difficult to deliver
universal ultrasound screening to communities where the population is mobile, the
time in hospital is short, and obstetric and imaging services may be geographically
separated.
Radiographycan be helpful in the neonate provided care is taken in positioning the
patient. However, X-rays are not generally reliable until approximately the age of 3
months (Fig. 27.36).
Infant. The hips should be examined as part of routine developmental checks, looking
in particular for asymmetry, such as an extra thigh crease, shortening of a limb or
limitation of abduction (Fig. 27.32).
Child. The child limps, the affected leg is externally rotated, there is an increased
lumbar lordosis, and there is regularly an extra thigh crease and limited abduction.
However, the signs may be subtle (Fig. 27.33) and easily misinterpreted as part of
normal development in an unsteady toddler. A bilateral case is more difficult to
diagnose because the gait is symmetrical. Indeed, the condition may be missed until
late in childhood.
Adolescent. Pain is the usual feature and an X-ray will reveal dysplasia and possible
subluxation.
Adult. Pain is again the usual complaint and X-rays may now show degenerative
change as well as dysplasia (Fig. 27.35).
Treatment
Although the details of treatment vary at different ages the principles are the same
(Table 27.7) and should all be considered before deciding which one is appropriate for
an individual case. The objective is a stable congruous reduction through gentle
methods so that the fragile growth plate is not damaged. Such an event (avascular
necrosis) is a major complication and usually results in shortening, coxa vara and a
greater trochanter, which is high because its growth plate is not affected.
Infant. Traction and surgery are not indicated. The hips can usually be reduced
(Ortolani) and should then be held in a harness or splint (Fig. 27.37) for about 8
weeks. A harness allows movement but requires more supervision, and out of expert
hands carries a significant failure rate. A splint contains the hips better but thereby
carries a risk of avascular necrosis.
A baby, for example, aged 6 months would usually require preliminary traction
followed by closed reduction augmented by soft-tissue release (psoas and/or
adductor).
An arthrogram is often helpful to define the abnormal soft tissues and confirm a
satisfactory reduction.
Toddler and young child. Although it is still possible to achieve reduction by closed
methods it becomes more likely that, with age, open reduction along with femoral or
innominate osteotomy will be required.
Open reduction. This is usually undertaken through the anterior approach. The iliac
apophysis is split. The psoas is divided near its insertion. The capsule is opened and
excess trimmed. The ligamentum teres and soft tissues in the acetabular floor are
removed. The transverse ligament is divided. The inturned labrum (limbos) may also
need to be cut in a radial fashion to allow entry of the femoral head. Reduction can
then usually be achieved. However, in the majority of cases it is necessary to
complement the reduction with a realignment femoral or innominate (Salter)
osteotomy. If reduction is impossible because of a high dislocation, femoral
shortening along with realignment is necessary. Postoperatively, the child is held in a
cast for 68 weeks and then mobilised.
In later childhood, dislocations can still be treated by the combination of open
reduction, femoral osteotomy and acetabuloplasty. However, the older the child the
more difficult and unrewarding the surgery becomes, especially in bilateral cases.
Adolescent or young adult. Those presenting with a painful dysplastic hip may require
surgery. A realignment of the joint through pelvic or femoral osteotomy is only appropriate if there is a congruous hip joint. Otherwise (i.e. subluxation) the acetabulum has
to be augmented by other means, for example shelf arthroplasty.
Special cases. DDH associated with neuromuscular disease, syndromic disorders or
skeletal dysplasia requires special thought. In such cases (e.g. arthrogryposis, spina
bifida) surgery is likely to fail through redisplacement or stiffness. Therefore, it may
well be in the childs overall best interests to leave the hip joint alone and restrict
ones surgery by treating major limb malalignment by corrective osteotomy.
Coxa vara
This is a descriptive term that describes a decrease in the angle between the femoral
neck and shaft. Many conditions can produce this deformity but three general
categories are recognised.
Congenital this is present at birth and results in shortening of the leg. It is often
associated with femoral deficiency.
Surgery is often required but where possible meniscal preserving techniques should
be used because total meniscectomy invariably leads to degenerative change.
Congenital dislocation of the knee
The joint is hypo extended with the tibia displaced forwards on the femur. Mild cases
are postural and related to malpresentation (e.g. extended breech). They can be treated
by simple splintage or exercises. More severe ones involve quadriceps contractures,
which require surgical release (quadricep plasty).
Congenital deformities of the fingers
Camptodactyly
This is a nontraumatic flexion deformity of the little finger at the proximal
interphalangeal joint. Most cases are better left alone as function is usually normal.
Clinodactyly
This is a curvature of a digit in the radioulnar direction. It may be associated with
other syndromes.
Kirners deformity
This affects the little finger in which there is radial and palmar curving of the distal
phalanx.