Staying Out of Trouble with Syndromes

Down syndrome is thought to be the most common
congenital malformation (1/660 live births), so there is a high
likelihood that most orthopaedists will care for several patients with
this condition. Staying out of trouble with Down syndrome means
focusing on the child and not abnormal radiographs. Down syndrome
patients can have all kinds of unusual physical exam and radiographic
findings, and yet function at a very high level. Focus on the problems
that will hamper function or cause pain.

Beware of spine problems in Down syndrome, including
cervical instability, scoliosis, and spondylolisthesis. When evaluating
cervical spine instability, don’t just look at C1-C2, look at occiput
C1 as well (Fig. 13-1). A simplified and reasonable approach to cervical spine instability in Down syndrome is as follows:

Don’t recommend a fusion of C1-C2 just because the
atlanto-dens interval is greater than 5 mm. Consider the risk and
benefits carefully, because attempts at fusion are known to be
associated with a very high complication rate. The use of wire
fixation, fusion to the occiput, halo immobilization, and carefully
constructed structural iliac crest bone graft has been reported to give
the best results.⁴

Hip instability in Down syndrome, including complete hip dislocation, can develop late (Fig. 13-2).
The hip can look good initially, but go on to complete dislocation
between the ages of 2 and 10 years. The acetabulum of the Down syndrome
hip can have a normal radiographic appearance, which belies the real
problem: extraordinary patholaxity of the soft tissues. Additionally,
behavior is a major component of problems in Down syndrome hips.
Children can be habitual hip dislocators, creating a challenge similar
to managing multidirectional shoulder instability in an adolescent with
generalized ligamentous laxity. In general, the surgical management of
hip instability in Down syndrome is extremely difficult. If you plan
surgery, do osteotomies, because you cannot rely on the soft tissues
for stability. Long-term postoperative bracing may help to avoid
redislocation. The complication rate of Down syndrome hip surgery can
approach 50%.⁵

Be alert for slipped capital femoral epiphysis (SCFE) in
a Down syndrome patient who develops an abnormal gait or complains of
knee or thigh pain. Some authors have suggested that hypothyroidism may
play a role.⁶ It is well known that
children with Down syndrome are more likely to get avascular necrosis
(AVN) after an SCFE than otherwise normal children. A recent report
showed AVN in 5 of 8 patients.⁷

There are two major types of neurofibromatosis: NF1 and
NF2. Because the orthopaedic problems are confined to NF1, you should
learn its diagnostic criteria. Neurofibromatosis is relatively common
(about 1/3000 infants), and many pediatric institutions have NF
programs, so you are certain to see affected children. Be alert that NF
can cause bone changes that are tumor-like in appearance (e.g., cysts
or scalloping) and that neurofibromas can undergo malignant
degeneration.

Be alert for spinal manifestations of neurofibromatosis.
The curves can be short and sharp, and there can be rib penciling and
other findings that have been well described by Crawford and others (Fig. 13-4). Scoliosis and neurofibromatosis

can start early and progress relentlessly. Bracing is usually
ineffective. The enlarging neurofibroma can erode away at the pedicles
(screw fixation can be difficult). Fusion rates are lower in children
with NF, and families should be counseled that more than one operation
may be necessary. Dystrophic kyphosis is particularly dangerous (Fig. 13-5).
This spinal deformity can lead to paralysis fairly rapidly. Best
results have been attained by both anterior and posterior fusion, using
an anterior structural strut graft.⁸, ⁹, ¹⁰ Erosion of the pedicles in the cervical spine can lead to cervical instability over time (Fig. 13-6). Be sure to monitor involved children closely.

Congenital pseudoarthrosis of the tibia is famous for
the trouble that it causes. Perhaps the best testament to the trouble
with congenital pseudoarthrosis is the fact that amputation was a
common treatment (and still is for some cases).¹¹ It is important to remember that congenital pseudoarthrosis affects not just the tibia (Fig. 13-7)
but can also affect the femur, clavicle, and either bone of the
forearm. To stay out of trouble, don’t do an osteotomy through bone
affected by neurofibromatosis. Clamshell bracing may be the best
protection in the very young. A comprehensive discussion of the risks
and benefits of different treatment methods is beyond the scope of this
book. Variable success has been reported with the Ilizarov device,¹² microvascular bone transfer,¹³ and bypass grafting.¹⁴
To stay out of trouble treating congenital pseudoarthrosis of the
tibia, prepare yourself and the family for multiple procedures and
followup to maturity before success is declared. These cases may be
best handled by the small group of surgeons who have done several.

Arthrogryposis is not a disease or diagnosis—it is a
physical finding of rigid joint contractures. This category of
syndromes includes dozens of distinctly different diseases including
arthrogryposis multiplex congenita (AMC), Larsen syndrome,
Freeman-Sheldon syndrome and the pterygium syndromes. Children with AMC
often present difficult multiple orthopaedic problems. To stay out of
trouble, operate on joints early before adaptive changes secondary to
the contractures make it difficult to get satisfactory results. Do
osteotomies closer to the end of growth to avoid recurrence of
deformity.

If you are consulted to see an infant with possible AMC,
don’t prescribe neonatal range of motion or other infant physical
therapy until birth fractures have been ruled out. In general, warn the
parents and the physical therapist against aggressive and forceful
manipulation that may cause fractures.

Closed reduction of a hip dislocation in a child with
AMC is rarely successful. Recent reports of open reduction, followed by
only a brief period of postoperative spica casting, seem to be giving
better results than in the past (when orthopaedic surgeons often would
wait to see which children will walk and which would not).¹⁵,¹⁶

If a knee flexion contracture is greater than
approximately 30 degrees, soft-tissue lengthening or release is
recommended in the first year of life. Knee extension contractures can
be treated at the same time as reduction of a dislocated hip,

but
knee flexion contractures should not: it is very hard to hold a hip
reduced when you are casting and splinting the knees in extension.

For an AMC clubfoot, casting alone is rarely successful. Avoid talectomy as an initial procedure.¹⁷ Instead, stay out of trouble by using early multiple releases with a shortened period of postoperative casting.¹⁸
In the upper extremities, it may be valuable to try to get one of two
rigidly extended elbows to flex to 90 degrees. Surgery on both elbows
is not recommended.

If you are consulted to see an infant with dislocated
knees, be alert to the fact that you may have encountered Larsen
syndrome. These patients can have so many joint and spine problems that
they can spend much of their childhood preparing for and recovering
from orthopaedic surgery.

In Larsen syndrome, the ACL is often absent, and there
may be patellar malalignment as well as dislocations of the radial
head. If done early, manipulative treatment to reduce the knees may
result in distal femoral fractures.

Children with Larsen syndrome can have abnormal cervical
spine segmentation. They develop kyphosis and myelopathy. Get a c-spine
series before the first birthday.

Popliteal pterygium is a very difficult problem to
manage. To stay out of trouble, be alert that the popliteal artery will
be deep, but the sciatic nerve can be very superficial¹⁹
in the popliteal web, and thus at risk for accidental surgical
lengthening (not recommended). If full knee extension cannot be
achieved by soft-tissue surgery alone, consider shortening the femur.

The mucopolysaccharidoses include a bewildering number
of conditions. In this category of syndromes, the names change
frequently and new ones are added from time to time. Although each
mucopolysaccharidosis is rare, the entire group as a whole is not
unusual. It can be difficult to establish the diagnosis on physical
examination and radiographs in an infant. Be alert that children with
Hurler syndrome can have odontoid hypoplasia and a spinal canal
soft-tissue mass. Children with Morquio syndrome are infamous for the
trouble they cause the orthopaedist. Use braces after realignment
osteotomies to protect their unstable knees. The cervical spine in
Morquio is a major source of trouble.²⁰
C1-C2 instability can lead to death even in the first year of life. Be
certain to get flexion/extension cervical spine films before any
general anesthetic is contemplated for a child with Morquio syndrome.²¹

Marfan syndrome is a relatively common (1/10,000)
autosomal dominant disorder. It can be difficult to make the diagnosis
because the clinical manifestations can vary greatly (Fig. 13-8).
If you are seeing a patient with long flat feet, scoliosis and
ligamentous laxity, it is wise to get the geneticist, cardiologist, and
perhaps the ophthalmologist involved if Marfan is suspected.

The management of scoliosis in children and adolescents
with Marfan syndrome is also a source of trouble. The spinal deformity
can follow the management guidelines of idiopathic scoliosis, but
bracing is less successful.²² The complications rate

of spinal fusion is higher in children with Marfan syndrome.²³,²⁴
Particular risks include pseudoarthrosis, progression outside the
fusion levels, and instrumentation levels and progressive kyphosis at
top or bottom of the instrumentation.²⁵ Splenic rupture has recently been reported after spinal fusion in Marfan.²⁶
Stay out of trouble by getting a cardiology consult before any surgery
is contemplated on children with Marfan syndrome. Some children may
need cardiac surgery first.

Protrusion of the hip also occurs in Marfan syndrome.
Howard Steel recommended closing the triradiate cartilage to halt
protrusion before age 10 years.²⁷

Chances are you’ll encounter a child with familial
dysautonomia, also known as Riley-Day syndrome, if your practice
includes spinal deformity, particularly if there is a large Eastern
European Jewish population in your area. In this ethnic group, the rate
of Riley-Day syndrome is 1/3700. Stay out of trouble by understanding
some special features of spinal deformity in this group. In a large
percentage of cases, scoliosis starts early and progresses rapidly.
Bracing is less effective in children with familial dysautonomia than
in adolescent idiopathic scoliosis. Also, kyphosis is an important part
of the deformity in many.²⁸ In
correcting their spinal deformities, try to manage the problem without
an anterior thoracic approach. Posterior osteotomies and pedicle screw
fixation may allow you to stay out of the chest (Fig. 13-9).
Be aware that the mortality after spine surgery is much higher in this
group than in patients with idiopathic scoliosis. Some children die in
childhood of pulmonary problems even without any thoracic surgery.

In Riley-Day syndrome, be alert that the insensitivity
to pain in this syndrome can result in unrecognized or untreated
fractures. If you see a child with Riley-Day syndrome and
osteochondritis dissecans, the disease can behave more like a Charcot
joint. The lesion can be refractory to typical osteochondritis
dissecans management.

Proteus syndrome is characterized by overgrowth,
manifesting as limb hypertrophy, macrodactyly, or other size
incongruity. Although the bony overgrowth can be halted in
macrodactyly, there is not a good solution for the overgrown soft

tissue.
Involved feet often require amputation or ray resection. To stay out of
trouble with Proteus syndrome, exhaust nonoperative methods and counsel
parents extensively before attempting any surgical management.
Recurrences and complications are very common. In general, it is
considered better to amputate rather than debulk in cases of
macrodactyly.²⁹
Simple epiphyseodesis of the overgrown leg is usually better than limb
lengthening, which can be fraught with complications. Angular
deformities can recur rapidly after surgical correction.

Klippel-Trénaunay syndrome is manifest by limb
hypertrophy with cutaneous nevi and varicosities. The current theory is
that it is due to an abnormality of the walls of the veins of the
extremities.

Simple resection of venous and lymphatic tissue is
likely to result in recurrence. If you plan to operate, it may be wise
to evaluate the full extent of the lesion with an MRI.

Children with Klippel-Trénaunay syndrome are prone to
excessive bleeding during surgery, so it is essential to have blood and
blood products available when contemplating surgery.

Consider Beckwith-Wiedemann syndrome if you are managing a large “cerebral palsy” patient with a leg length inequality.³⁰
To stay out of trouble, keep in mind that there is a 10% incidence of
abdominal tumors, especially Wilm tumor, associated with the
hemihypertrophy. Involve your referring pediatrician or your
institution’s oncology team in surveillance for these abdominal tumors.

Timing epiphysiodesis in children with Russell-Silver
syndrome can be a source of trouble. In this syndrome, they can have
very abnormal growth patterns, which can vary greatly between
individuals.³⁰

In Turner syndrome, the administration of growth
hormones can lead to rapid worsening of scoliosis. Stay out of trouble
by working with your endocrinologist and following these children
closely while they are on growth hormones.

Rett syndrome is an X-linked disorder that can present
to you in your cerebral palsy clinic as a girl who seemed to be normal
in her first year or two, but then progressively develops dementia,
autism, ataxia, and repetitive hand motions. To stay out of trouble,
don’t ignore the scoliosis because you believe that Rett syndrome is
lethal. In some cases of Rett syndrome, life expectancy is normal.
Therefore, the spinal deformity should be managed with a full
understanding of life expectancy and careful counseling of the family.³¹
The spinal deformity is managed similarly to neuromuscular curves in
children with cerebral palsy, in whom segmental fixation and fusion to
the pelvis gives the best results. The onset of scoliosis is usually
before age 8 years, and rapid curve progression is usually detected
early in the second decade. In Rett syndrome, sagittal deformity with
excessive kyphosis can progress and necessitates close observation.
Orthotic treatment does not alter the natural history of scoliosis or
kyphosis. Indications for surgery are curve progression exceeding a 40-
or 45-degree Cobb angle or curves that cause pain or loss of function.³²

Osteogenesis imperfecta (OI) represents a collection of
conditions of greatly varying severity in which the fundamental problem
is a defect of Type 1 collagen. As such, it is easy to remember that
these children have fragile bones, but don’t forget about the
ligamentous laxity, spinal deformities, hearing loss, easy bruisability
and other manifestations. One potential source of major trouble may
occur at your first encounter. Fractures of infancy, and the
mishandling of the diagnostic dilemma of child abuse vs. OI, causes
lots of trouble for families, doctors and institutions³³, ³⁴, ³⁵ (Fig. 13-10).
Diagnosis is easy when there is a family history of OI or other
features of the syndrome (e.g., blue sclera, etc.) or when the history
or injury constellation suggests abuse. Unfortunately, such history and
examination features are absent. In very ambiguous cases, work up both
child abuse and OI simultaneously, and enlist all the help you can from
Genetics and the appropriate authorities. To stay out of trouble,
expect that anything you write or say regarding an infant’s OI fracture
may end up in a court of law.

Besides creating deformity, multiple fractures in OI can
have some unexpected consequences. Be vigilant for growth arrests that
are caused by multiple injuries in the physeal region. Hypertropic
callus can be mistaken for osteogenic sarcoma,

leading to unnecessary amputation. Yet, osteogenic sarcoma can certainly occur in OI as it can in any child or adolescent.

Don’t contribute to the fragile bone problem. Standard
fracture immobilization protocols further decrease bone density and
disuse atrophy. To avoid osteopenia, immobilize fractures only until
symptoms resolve. In children with very high fracture rates, a
“fracture kit,” containing a series of splints for each upper and lower
extremity limb segment, saves hospital visits and prolonged
immobilization in full casts.

Sofield-type osteotomies have become the mainstay of
treatment for the deformities associated with OI. Even in the best of
hands, the complication rate can be high, particularly when nailing is
performed in young patients³⁶,³⁷ (Fig. 13-11).

Migration of the nail has been a particularly common source of trouble.³⁸
When planning Sofield osteotomies, have every size of intramedullary
device available and be prepared to modify devices as needed. The
minimum internal diameter of the bone may be very hard to evaluate
preoperatively.³⁹ Staging of
multiple osteotomies in four different limbs may be necessary to avoid
very high blood loss. Increasingly, Sofield osteotomies are being done
through small percutaneous incisions.⁴⁰ Regarding timing after fracture, a Sofield osteotomy should either be done within a few days after fracture⁴¹
or after complete fracture healing. If the osteotomy is done 1 to 3
weeks after fracture, the orthopaedic surgeon may encounter excessive
bleeding from hyperemia of bone healing. Be prepared that there may be
no true medullary cavity. Reaming is sometimes necessary. The child
should be allowed to weight bear as soon as tolerated in casts or
braces to maintain maximum bone strength.

Spinal deformities in OI are difficult to manage.⁴² Pulmonary function deteriorates as curves reach 60 degrees.⁴³
Corrective bracing can be difficult and detrimental. The children often
cannot tolerate the brace because of the excessive sweating related to
their condition. The corrective scoliosis brace can also deform the
soft ribs of a child with OI. For surgical correction, it is important
to plan an instrumentation strategy that involves multiple points of
fixation. Preoperative halo gravity traction has been used with some
success.⁴⁴ Iliac crest autograft is
often insufficient, so the family should be consented for allograft.
Postoperative immobilization is tolerated poorly.

Although classic nutritional rickets is seen less
frequently than it was generations ago, you may occasionally be asked
to correct deformities or manage problems of children with rickets,
especially the forms related to an inherited metabolic disorder. To
stay out of trouble with the correction of angular deformities,
optimize the medical management first.⁴⁵,⁴⁶ Work with the patient’s pediatrician or

with the endocrinologist to be sure that the child is getting the
optimum doses of calcium and vitamin D (depending on the underlying
metabolic problem). In most cases, slight overcorrection of the angular
deformity is recommended to reduce the risk of recurrence. Finally,
think of SCFE in children with renal osteodystrophy who present with
hip, thigh or knee pain. Consider prophylactic pinning of the unslipped
opposite side because bilateral SCFE is very common in this population.

Osteopetrosis, a genetic defect in the osteoclast,
compromises the ability of these cells to reabsorb bone, leading to
very dense bone, fractures, and deformities. If you encounter a
fracture in a child with osteopetrosis, be alert that these fractures
can be slower to heal than you would normally expect. Corrective
osteotomies for coxa vara and other deformities can be difficult to
perform. Intramedullary fixation is difficult, as drills, saw blades,
and other tools become very dull and can break during work on this
extremely hard bone.⁴⁷ Be alert to the fact that children with osteopetrosis are also at increased risk of osteomyelitis (Fig. 13-12).