CHAPTER
104
Spinal Deformity in Skeletal
Dysplasia Conditions
INTRODUCTION
Skeletal dysplasias are a heterogeneous group of disorders
caused by abnormalities in bone growth and/or cartilage. Skel-
etal dysplasias are associated with a body disproportion and
short stature, which is defined as height greater than 2 stan-
dard deviations less than the population mean for the chrono-
logic age. In addition, spinal abnormalities are common in
patients with skeletal dysplasias. For example, in a retrospective
series of 80 patients with disproportionate short stature, all had
some manifestation of a spinal disorder.9
The purpose of this chapter is to review: (1) skeletal dyspla-
sias that are associated with spinal abnormalities; (2) general
considerations for spinal surgery in patients with these dyspla-
sias; and (3) spinal manifestations of skeletal dysplasias that
may require surgery, which include foramen magnum stenosis,
odontoid hypoplasia/atlantoaxial instability, cervical kyphosis,
thoracic and thoracolumbar kyphosis, spinal stenosis, and
scoliosis.
CLASSIFICATIONS
Traditionally, skeletal dysplasias have been classified according
to the type of body disproportion: short limb or short trunk.
Short-limb types are subdivided by the location of the short
segment: proximal shortness (rhizomelic), middle shortening
(mesomelic), or distal shortening (acromelic). Alternatively,
dysplasias maybe classified by the presence (Table 104.1) or
absence of spinal abnormality (multiple epiphyseal dysplasia).
As molecular research has identified several causative genetic
defects, skeletal dysplasias may now also be classified based on
the specific genetic etiology.
Achondroplasia, the most common skeletal dysplasia, has an
incidence of 1 in 30,000 persons.21 Inheritance is autosomal
dominant, although more than 90% of cases result from spo-
radic mutations.21 Achondroplasia is characterized by rhi-
zomelic shortening, normal trunk length, frontal bossing, tri-
dent hands, genu varum, flexion contractures of the elbows
None of the authors or the department with which they are affiliated has
received anything of value from or owns stock in a commercial company or
institution related directly or indirectly to the subject of this article.
1084
LWBK836_Ch104_p1084-1098.indd 1084
Eric D. Shirley
Michael C. Ain
with subluxed radial heads, and ligamentous laxity. Spinal man-
ifestations of achondroplasia include foramen magnum steno-
sis, thoracolumbar kyphosis, and spinal stenosis.
Diastrophic dysplasia is caused by mutations in the sulfate
transporter gene. This dysplasia is extremely rare, except in
Finland. Inheritance is autosomal recessive. Manifestations
include cauliflower ear, marked short stature with rhizomelic
shortening, hitchhiker thumbs, severe clubfeet, joint contrac-
tures, and severe osteoarthritis. Spinal manifestations include
cervical kyphosis, cervical spina bifida, kyphosis, scoliosis, and
kyphoscoliosis9 (Fig. 104.1).
Several skeletal dysplasias are the result of mutations in colla-
gen synthesis, including Kniest dysplasia, metaphyseal chon-
drodysplasias (Schmid type), and spondyloepiphyseal congenita.
Kniest dysplasia, an autosomal dominant disorder caused by
mutations in type-II collagen (COL2A1), is characterized by a
trunk that is disproportionately shorter than the limbs. The
long bones are dumbbell shaped with broad metaphyses and
irregular epiphyses. Extremity manifestations include joint con-
tractures, limb malalignment, and degenerative arthritis. Spinal
manifestations include hypoplasia of the odontoid and other
cervical vertebrae, platyspondyly, kyphosis, and scoliosis.
The metaphyseal chondrodysplasias are a group of dyspla-
sias characterized by metaphyseal involvement with epiphyseal
preservation. The Schmid type (the most common type) is
caused by an -1 chain of type X collagen (COL10A1) mutation
with autosomal dominant inheritance. This type is character-
ized by varus alignment of the knees and ankles and by short
stature. The McKusick type, also known as cartilage-hair hyp-
oplasia, is characterized by ligamentous laxity, genu varum,
pectus abnormalities, fine hair, and an increased risk of viral
infection and malignancy. This type is more common in the
Amish community and in Finland. Atlantoaxial instability and
scoliosis may occur in the Schmid and McKusick types of meta-
physeal chondrodysplasia.
Spondyloepiphyseal congenita is also caused by mutations
in collagen type-II -1 chain (COL2A1). Inheritance is auto-
somal dominant, but most patients acquire the disease through
new mutations. This extremely rare dysplasia is characterized
by short stature, short trunk, short limbs, and abnormal forma-
tion of the long-bone epiphyses with lower extremity malalign-
ment and arthritis. Spinal abnormalities in spondyloepiphyseal
congenita include platyspondyly, odontoid hypoplasia, atlanto-
axial instability, kyphosis, and scoliosis.9 Spondyloepiphyseal
8/26/11 3:01:08 PM
 Chapter 104 Spinal Deformity in Skeletal Dysplasia Conditions 1085

TABLE 104.1 Skeletal Dysplasias Associated with Spinal Manifestations

Atlantoaxial Cervical Spinal

Dysplasia Instability Kyphosis Scoliosis Kyphosis Stenosis
Achondroplasia Yes Yes
Chondrodysplasia punctata Yes Yes Yes Yes
Diastrophic dysplasia Yes Yes Yes
Kniest dysplasia Yes Yes Yes
Larsen syndrome Yes Yes Yes
Metaphyseal chondrodysplasias Yes Yes
Metatropic dwarfism Yes Yes Yes
Mucopolysaccharidoses Yes Yes Yes
Pseudoachondroplasia Yes Yes
Spondyloepiphyseal dysplasia Yes Yes Yes
Spondylometaphyseal dysplasia Yes Yes

tarda is milder than spondyloepiphyseal congenita and is usu-
ally not diagnosed until the first decade of life. Patients with
spondyloepiphyseal tarda may have odontoid hypoplasia, short-
ened pedicles, and defects in the posterior neural arches, mild
platyspondyly, or scoliosis.
Spondyloepimetaphyseal dysplasia is a rare dysplasia charac-
terized by generalized spine and epiphyseal and metaphyseal
involvement. Manifestations include joint laxity, radial head
dislocations, and severe kyphoscoliosis.31
The mucopolysaccharidoses, a group of lysosomal storage
diseases, are characterized by short stature, stiff joints, oval ver-
tebral bodies, and capacious acetabuli. These dysplasias are
subdivided by the causative enzymatic deficiency. Type I is
known as Hurler syndrome, and type IV is known as Morquio
syndrome. Inheritance is autosomal recessive except in type-II
(Hunter syndrome), which is X-linked. In Morquio syndrome,
the defective degradation of keratan sulfate in the cornea, car-
tilage, and nucleus pulposus of the intervertebral discs, results
in the presence of corneal opacities and urinary excretion of
keratan sulfate. Manifestations of Morquio syndrome include
severe ligamentous laxity and epiphyseal dysplasia. Spinal man-
ifestations include platyspondyly, odontoid hypoplasia that may
be associated with an anterior extradural soft tissue mass, atlan-
toaxial instability, and scoliosis (Fig. 104.2).
Pseudoachondroplasia is caused by a mutation in the gene
for cartilage oligomeric matrix protein, an extracellular matrix
glycoprotein found in the matrix surrounding chondrocytes.
Inheritance is autosomal dominant. There is involvement of

Figure 104.1. Posteroanterior spine radiograph of a 45-year-old Figure 104.2. Lateral radiograph of a 29-year-old patient with
patient with diastrophic dysplasia and scoliosis. Morquio syndrome and platyspondyly.

LWBK836_Ch104_p1084-1098.indd 1085 8/26/11 3:01:08 PM

 1086 Section IX Dysplastic and Congenital Deformities
the spine, metaphyses, and epiphyses. Specific manifestations
include normal facies, ligamentous laxity, hip subluxation, and
lower extremity malalignment (genu valgum or windswept
knees). Spinal abnormalities include odontoid hypoplasia,
atlantoaxial instability, and scoliosis.
Metatropic dwarfism is characterized by a short-limb dwarf-
ism that appears early in life and that coverts to a short-trunk
pattern when kyphosis and scoliosis develops. Manifestations
include marked metaphyseal involvement, coccygeal tail, pec-
tus carinatum, and ligamentous laxity. Spinal manifestations
include markedly flat vertebral bodies throughout the spine,
atlantoaxial instability, and kyphoscoliosis.
The manifestations of Larsen syndrome include hypertelor-
ism, hypotonia, and multiple joint dislocations. These disloca-
tions commonly involve the elbows, hips, and knees. Spinal
pathology includes cervical kyphosis, cervical/thoracic spina
bifida, atlantoaxial instability, subaxial instability, spondylolis-
thesis, and scoliosis.
Chondrodysplasia punctata, also known as congenital
stippled epiphysis, has multiple subtypes. The most common
subtype, ConradiHnermann syndrome, is characterized by
hypertelorism, alopecia, congenital heart and kidney abnor-
malities, mental retardation, coxa vara, and clubfeet. Spinal
manifestations include atlantoaxial instability, scoliosis, kypho-
sis, and spinal stenosis.
GENERAL CONSIDERATIONS FOR
SPINAL SURGERY IN PATIENTS WITH
SKELETAL DYSPLASIAS
PREOPERATIVE MANAGEMENT
Several considerations need to be addressed before spinal sur-
gery for patients with skeletal dysplasias. Planning for postop-
erative care should begin preoperatively. For example, if
postoperative immobilization (halo, cast) will be required,
arrangements should be made preoperatively to expedite care
and ease the stress on the patients family. Patients with skeletal
dysplasias often have multiple medical comorbidities and
require the appropriate consultations preoperatively. Routine
preoperative hematologic evaluations are necessary and
include, at a minimum, a complete blood cell count and basic
metabolic panel. Congenital cardiac abnormalities may occur
in patients with ConradiHnermann syndrome and Morquio
syndrome. Cardiac (with echocardiogram) and pulmonary
(with pulmonary function tests) consultations are frequently
indicated to determine if additional measures are needed to
decrease the risk of perioperative medical complications. Renal
dysfunction may also be present in patients with Conradi
Hnermann syndrome. Because of the complexity of the sur-
geries and the presence of comorbidities in skeletal dysplasia,
it is optimal to perform treatment at institutions with experi-
ence in such cases.
Several skeletal dysplasias are associated with atlantoaxial
instability (Table 104.1). We have seen many patients with skel-
etal dysplasias who have presented for a second opinion
regarding total joint arthroplasty, and who subsequently were
found to have atlantoaxial instability that needed to be
addressed surgically before undergoing anesthesia for extrem-
ity surgery. Therefore, when patients with these dysplasias (and
other patients for whom there is clinical suspicion of the same)
LWBK836_Ch104_p1084-1098.indd 1086
undergo surgery, the presence of atlantoaxial instability must
be ruled out with lateral cervical flexionextension radio-
graphs before surgery (see guidelines for surgery later in this
chapter).
Patients with skeletal dysplasias are at risk for neurologic
complications intraoperatively and when being placed in the
prone position on the operating room table.22 Hence, spinal
cord monitoring is recommended in all patients with skeletal
dysplasias.
Several conditions require additional attention from the
anesthesiologist intraoperatively; therefore, preoperative evalu-
ation is imperative for surgical preparations. Oropharyngeal
malformations or laryngotracheomalacia (Larsen syndrome)
may be present and specifically require fiberoptic intubation.
Respiratory impairment is common in patients with achondro-
plasia (because of the small thoracic cage, the presence of par-
tial airway obstruction, and sleep apnea), Kniest syndrome
(because of aspiration associated with cleft palate or trache-
omalacia), metatropic dysplasia, Morquio syndrome (because
of sleep apnea and pulmonary hypertension), pseudoachon-
droplasia (because of progressive paralysis of respiratory mus-
cles), and spondyloepiphyseal dysplasia tarda (because of the
small volume of the thoracic cavity). If a central line is planned,
it may difficult to place because of the small stature, requiring
the assistance of a general surgeon.
After successful intubation and establishment of arterial and
venous access, positioning the patient on the operating room
table requires special care. Most importantly, the endotracheal
tube can be easily dislodged because of the short length of the
airway in patients with skeletal dysplasia. All adjustments to the
patients position on the operating room table must be made
carefully because of the high risk of inadvertent extubation.
Patient size; the presence of shoulder, elbow, hip, or knee con-
tractures; and lumbar lordosis may complicate positioning.
Safe positioning often requires additional gel pads to ensure
padding of all bony prominences.
SPINAL INSTRUMENTATION
The placement of standard spinal instrumentation in patients
with skeletal dysplasias is technically feasible. However, no
instrumentation, such as wires or hooks, should be placed in
the spinal canals of patients with dysplasias associated with
stenosis (achondroplasia, ConradiHnermann syndrome).
Pedicle screws provide the advantages of an intraosseous posi-
tion (i.e., not intracanal) that will not move during deformity
correction and of increased control or correction.
Pedicle screw instrumentation in the patient with achondro-
plasia or in other patients with short stature can be challenging.
Safe insertion requires technical experience and knowledge of
the pedicle morphometry. Of all the skeletal dysplasias, the
pedicle morphology has been the best described in achondro-
plasia.28 Compared with pedicles in the normal spine, achon-
droplastic pedicles are markedly different, with pedicle lengths
that are significantly shorter. Screws 20 to 25 mm in length are
appropriate for the lower thoracic and lumbar pedicles in adult
patients with achondroplasia. Pedicles have a cranial inclination
and starting points for screw insertion that diverge progressively
in the lumbar spine from L5 to L1.28 The medial-lateral pedicle
diameter is similar to that of normal patients, but the cranial-
cardial pedicle diameters are smaller. Pedicle screw diameters
of 5 to 7 mm are safe in most adult patients.
8/26/11 3:01:09 PM
 Chapter 104 Spinal Deformity in Skeletal Dysplasia Conditions 1087

Pedicle screws frequently are placed in patients with skeletal

dysplasias under fluoroscopic guidance to facilitate finding the
atypical and trajectory location of the routinely small pedicles.
Fluoroscopy is also helpful for identifying the sagittal plane tra-
jectory of the pedicle vertebrae, which changes superior and
inferior to the apex of the kyphosis.
POSTOPERATIVE MANAGEMENT
The need to prevent and treat postoperative pulmonary com-
plications cannot be overemphasized. After surgery, if substan-
tial soft tissue swelling of the face is noted, extubation should
be delayed. Patients should be extubated during the morning
or early afternoon when an otolaryngology attending surgeon
is available for airway emergencies. Postoperative cast immobi-
lization should be used only when absolutely necessary because
its use can create a restrictive pulmonary process and it is
important to minimize pulmonary complications. Details on
postoperative management for each condition are described
below.
COMPLICATIONS
Specific complications related to each surgery for the distinct
conditions are in the sections below. However, in general,
potential complications of spinal surgery in patients with skel-
etal dysplasias can be divided into several categories: neuro-
logic, bleeding, infectious, bone/ligamentous, iatrogenic, and
medical.11,23,29 Neurologic complications include paraplegia,
failure to relieve symptoms, recurrence or worsening of symp-
toms, and urinary retention. Uncontrolled bleeding can result
in epidural hematoma. Bone/ligamentous complications
include pseudarthrosis and vertebral column instability of the
uninstrumented spine. Wound, pulmonary, and urinary
infections may occur. Medical complications include airway/
pulmonary complications, anemia, and ileus. Finally, because
these surgeries are complex procedures in patients with multi-
ple comorbidities, death may result.11,23,29
Manifestations of Foramen
TABLE 104.2
Magnum Stenosis
Snoring
Sleep apnea
Swallowing difficulty
Developmental delay
Sudden infant death
Lower cranial nerve dysfunction
Hyperreflexia
Hypotonia
Weakness
Clonus
hyperreflexia, hypotonia, weakness or paresis, clonus, apnea,
and swallowing difficulty. In addition, foramen magnum steno-
sis may also result in severe developmental delay. Most impor-
tantly, sudden infant death may occur because of the brainstem
compression and secondary sleep apnea. Therefore, early diag-
nosis and treatment are critical.
Overnight polysomnography and computed tomography or
magnetic resonance imaging (MRI) are recommended by the
American Academy of Pediatrics to screen for foramen mag-
num stenosis in all infants with achondroplasia. MRI of the cer-
vicocranial junction will confirm the diagnosis (Fig. 104.3) and,
when present, surgical decompression is required. In addition,
it is important to image the entire cervical spine and upper
thoracic spine for occult stenosis.
Surgical Considerations
After successful induction of anesthesia and endotracheal intu-
bation, the authors routinely utilize Mayfield tongs. The patient
is turned to the prone position, and then the Mayfield headrest
is adjusted so that the head and neck are in a neutral position.

SPECIFIC CONDITIONS
FORAMEN MAGNUM STENOSIS
Manifestations and Treatment
Foramen magnum stenosis may occur in patients with achon-
droplasia and hypochondroplasia. The manifestations and
treatment of foramen magnum stenosis have been most com-
pletely described in patients with achondroplasia.6,7,10
The individual with achondroplasia is born with a compara-
tively small foramen magnum. During infancy, the endochon-
dral bone formation defects and abnormal placement of the
synchondroses can result in severe impairment of the growth of
the foramen magnum. The abnormal development of the fora-
men magnum places the patient with achondroplasia at risk for
symptomatic stenosis. Foramen magnum stenosis presents in
most patients during the first 2 years of life, but it can also pres-
ent later in life (Table 104.2).
The most common presenting symptoms of foramen mag-
num stenosis are excessive snoring and sleep apnea.6 Stenosis
may also result in other signs or symptoms of chronic brain- Figure 104.3. Magnetic resonance imaging of a patient with
stem compression, including lower cranial nerve dysfunction, achondroplasia and foramen magnum stenosis.

LWBK836_Ch104_p1084-1098.indd 1087 8/26/11 3:01:09 PM

 1088 Section IX Dysplastic and Congenital Deformities
The head of the table is elevated 15 in a reverse Trendelen-
burg position to minimize venous stasis.
The skin incision extends from the inion to the C3 spinous
process. The foramen magnum and the C1-C2 laminae are
exposed subperiosteally. During this exposure, the surgeon
must be familiar with the altered anatomy of the cervicomedul-
lary region in the individual with achondroplasia. The altered
anatomy includes a posterior rim of the foramen magnum that
is more horizontal in orientation, with thickening of the poste-
rior lip of the foramen magnum.6
Care is taken to define the plane between the occiput and
posterior rim of C1 and the underlying fibrous band and dura
mater. Instruments should not be passed under the intact bony
edge of the occiput, in effort to define this plane, because the
available space for the cord is insufficient. Therefore, a high-
speed burr is used to thin the bone and leave only a thin rim of
bone anteriorly. A curette or Leksell rongeur then safely
removes the remaining bone away from the dura. Bony decom-
pression involves removing the keel of bone at the foramen
magnum, which often constricts the brainstem. In infants, the
decompression typically extends over to the posterior rim of
C1. However, in adults, the decompression may extend to T4
because of the additional stenosis in the subaxial cervical spine
and upper thoracic spine.11 Fibrous tissue is removed if it is
causing constriction over the dura.6
After the bone and fibrous decompression, intraoperative
ultrasound is used to allow real-time assessment of cerebrospi-
nal fluid. Pulsatility at the upper cervical spine and brainstem
suggests a satisfactory decompression. Duraplasty is performed
if the ultrasound suggests persistent compression, despite ade-
quate bony and fibrous decompression.
Throughout the decompression, it is critical to maintain
hemostasis, which is facilitated by the use of irrigating bipolar
cautery, bone wax, and frequent evaluations for bleeding. After
the decompression, a meticulous closure is performed. In
patients with a history of apnea, the endotracheal tube is left
in place until at least postoperative day one and the patient is
clinically ready for extubation.
Complications
Bagley et al6 reviewed 43 patients with achondroplasia who
underwent cervicomedullary decompression for foramen mag-
num stenosis. The mean age at the time of operation was
5 years and 10 months. Patients underwent a foramen magnum
decompression and upper cervical laminectomy, with or with-
out duraplasty. There was often dramatic improvement of respi-
ratory symptoms soon after decompression. Complications
included cerebrospinal fluid leaks (seven patients), recurrent
stenosis requiring revision surgery (five patients), and infection
(four patients).6
ODONTOID HYPOPLASIA AND
ATLANTOAXIAL INSTABILITY
Manifestations and Treatment
Odontoid hypoplasia and atlantoaxial instability may occur in
several skeletal dysplasias (Table 104.1). Atlantoaxial instability
can result in spinal cord compression. Signs and symptoms of
cervical myelopathy typically include a progressive lack of
endurance and upper motor neuron signs (hyperreflexia,
LWBK836_Ch104_p1084-1098.indd 1088
clonus, positive Babinski sign, inverted radial reflex, Hoffmans
sign, and spasticity). However, the myelopathy secondary to
atlantoaxial instability may be atypical and may present with
general tiredness, vague pains in the extremities, inability to
improve the limbs on awakening in the morning, failure to
develop gait, and unexplained paroxysmal tachypnea. Fatigue
generally occurs before the development of neurologic signs.
The myelopathy also may result in delayed motor development,
which can be inappropriately attributed to other causes. For
example, in patients with Morquio syndrome, gait disturbance
from myelopathy can be inappropriately attributed to severe
genu valgum.11
A diagnosis of odontoid hypoplasia or aplasia is made via
plain radiographs. Lateral flexionextension cervical spine
radiographs identify the presence of atlantoaxial instability. In
patients with dysplasias associated with atlantoaxial instability
or with confirmed odontoid hypoplasia, complete neurologic
examinations should be performed at each visit. If neurologic
compromise is present or the flexionextension radiographs
show more than 8 mm of translation, C1-C2 arthrodesis is indi-
cated (Fig. 104.4). Decision making for 5 to 8 mm of transla-
tion is facilitated by obtaining an MRI in flexion and extension.
Arthrodesis is performed if the flexionextension MRI scan
shows cord compromise. Cervical arthrodesis is also considered
if spinal cord space is less than 14 mm.2
Surgical Considerations
Before surgery, lateral cervical radiographs are obtained to
measure: (1) the atlantodens interval, the distance between the
posterior rim of the anterior arch of the atlas and the adjacent
dens; (2) the sagittal atlas diameter, the distance between the
posterior edge of the anterior arch of the atlas and the anterior
edge of the posterior arch of the atlas; and (3) the sagittal canal
diameter, the distance between the posterior aspect of the dens
and the anterior edge of the posterior arch of the atlas. These
measurements are used to help determine the levels of decom-
pression and arthrodesis.
In patients with myelopathy, preoperative reduction in a
halo is considered. The halo allows appropriate traction and
positioning of the neck and prevents hypermobility during
the procedure. Fiberoptic orotracheal or nasotracheal intu-
bation usually is performed. The patient is placed prone, and
the incision and exposure extends from the inion to the
C3 spinous process. The C1 and C2 vertebrae are exposed
subperiosteally.
The levels of decompression and fusion depend on the
degree of stenosis. When the sagittal atlas diameter is normal,
the space in the sagittal canal usually is sufficient to accommo-
date the spinal cord once the subluxation is reduced. In this
setting, C1 laminectomy is not needed, and only posterior
arthrodesis of C1-C2 is required. However, if the sagittal canal
diameter is less than 14 to 16 mm, or a fixed subluxation can-
not be reduced, then a C1 decompression with arthrodesis to
the occiput is necessary.15,20 C2 laminoplasty and enlargement
of the foramen magnum are performed as needed. In addition,
duraplasty is performed if there are constricting dural bands.
In patients with Morquio syndrome, an anterior hypertro-
phic soft tissue mass may be present along with the atlantoaxial
instability. However, anterior decompression usually is not per-
formed at the index surgery because the soft tissue mass usually
resolves after successful posterior arthrodesis.
8/26/11 3:01:09 PM
 Chapter 104 Spinal Deformity in Skeletal Dysplasia Conditions 1089

A B

C D

Figure 104.4. Preoperative extension (A) and flexion (B) radiographs of a 4-year-old child with spondy-
loepiphyseal dysplasia congenita and atlantoaxial instability. Postoperative lateral (C) and extension lateral
(D) radiographs after C1-C2 arthrodesis.

Once the decompression is completed, reduction (which is
aided by the halo) is verified by intraoperative radiographs.
Attention is then turned toward the arthrodesis. A wide expo-
sure facilitates visualization for decortication, instrumentation,
and bone graft application. Aggressive decortication is per-
formed to increase the surface area for bone graft adherence.
Internal fixation is usually augmented by halo stabilization.
Posterior cervical fixation can be achieved in patients with
small stature via cables, lateral mass and pedicle screws, or
C1-C2 intra-articular screws. Autologous bone graft is preferred.
Bone from the laminectomies can be used, but it may be insuf-
ficient in volume. Bilateral iliac crest graft is often required but
can be difficult to obtain in the setting of severe lordosis, in
which case bone graft may be obtained from the femur and
tibia. When there is a concern about achieving a successful
fusion because of poor bone quality, the arthrodesis can be

LWBK836_Ch104_p1084-1098.indd 1089 8/26/11 3:01:09 PM

 1090 Section IX Dysplastic and Congenital Deformities
extended distally. Motion between the atlas and the occiput is
preserved whenever possible.2,9 Postoperatively, the halo is
typically worn for 3 to 6 months, but up to 11 months may be
necessary.2
Complications
Cervical fusion rates up to 92% have been reported in patients
with skeletal dysplasia.2 Complications include nonunion and
instrument loosening,2 neurologic injury with acute quadriple-
gia, bleeding, infection, neurovascular damage, fracture,
malunion, dural leak, and death.2
CERVICAL KYPHOSIS
Manifestations and Treatment
Cervical kyphosis may occur in patients with diastrophic dyspla-
sia and Larsen syndrome. The natural history of the kyphosis in
these two dysplasias differs. In diastrophic dysplasia, cervical
kyphosis occurs in up to one third of patients,24 and concurrent
cervical spina bifida is present in 80% of patients.26 The cause
of the kyphosis is related to vertebral body hypoplasia from C3
to C5 rather than to the presence of the spina bifida. The apex
of the kyphosis is usually located at C3 or C4.24 Because of the
high prevalence of kyphosis in such patients, screening cervical
spine radiographs are obtained during the first 2 years of life.
If kyphosis is identified, radiographs are subsequently obtained
at 6-month intervals to follow for progression.
Fortunately, the natural history of cervical kyphosis in dia-
strophic dysplasia is favorable. Most cervical kyphoses resolve as
affected children begin to hold their heads up. Holding the
head up strengthens the extensor muscles of the neck and
decreases the pathologic load on the cartilaginous parts of the
vertebrae. Decreasing the mechanical stress on the vertebrae
allows for the normal four-cornered shape to return.24 However,
if the kyphosis exceeds 60 and the apex vertebra is round or
triangular and totally displaced posterior, then progression is
likely.24 Because most cervical kyphoses in diastrophic dysplasia
resolve, treatment is usually not required. Bracing is considered
if the kyphosis progresses, and the Milwaukee brace can be
effective in such patients.8 Surgery is indicated if there are neu-
rologic signs or symptoms or if the kyphosis continues to prog-
ress. Without surgery, the progressive cervical kyphosis can pro-
duce medullar compression, quadriplegia, and death.24,26
In Larsen syndrome, cervical kyphosis occurs in up to 60%
of cases.12,14 The vertebral bodies are hypoplastic at C4 and C5.
Unlike in patients with diastrophic dysplasia, spontaneous
improvement has not been reported. To prevent additional
progression, posterior spinal arthrodesis is indicated for kypho-
ses greater than 40.
Surgical Considerations
A halo is usually applied in the supine patient after the induc-
tion of anesthesia; the patient is then placed in the prone posi-
tion for the surgical exposure. In patients with diastrophic
dysplasia, extra care is necessary to avoid iatrogenic injury when
the bifid lamina are exposed, with attention to avoiding iatro-
genic injury because of the bifida lamina. Posterior spine
arthrodesis over the involved segments is performed, and
instrumentation is used as the bony anatomy allows. Bone graft
LWBK836_Ch104_p1084-1098.indd 1090
may be taken from the bilateral iliac crests or, if more bone is
required, from the femur or tibia. In select cases, anterior
decompression is also performed if anterior compression is
present. Severe anterior cord compression or myelopathy
requires corpectomy and strut grafting. The halo is worn post-
operatively for 3 to 6 months as necessary.
Complications
Complications of surgery include nonunion, hardware breakage/
dislodgment, neurologic injury, bleeding, and infection.
THORACIC AND THORACOLUMBAR KYPHOSIS
Manifestations and Treatment
Thoracic or thoracolumbar kyphosis may occur in several dif-
ferent dysplasias. These dysplasias include achondroplasia,
ConradiHnermann syndrome, diastrophic dwarfism, metat-
ropic dwarfism, mucopolysaccharidoses, and spondyloepiphy-
seal dysplasia. The cause, natural history, and treatment of
kyphosis has been the most completely described in patients
with achondroplasia.
Thoracolumbar kyphosis develops in up to 90% of infants
with achondroplasia.13 At birth, the infant with achondroplasia
typically exhibits a thoracolumbar kyphosis of 20. When sitting
begins (between 6 and 18 months), the infant often slumps for-
ward because of trunk hypotonia in the presence of a relatively
oversized head, flat chest, and protuberant abdomen. Persistent
forward slumping results in an increase in the kyphosis. Most
kyphoses are approximately 70, involve T10-L4, and may be
associated with anterior vertebral wedging.13 Efforts to prevent
the development of kyphosis focus on avoiding unsupported
sitting and sitting more than 60 upright, even with support.
When the infant with achondroplasia begins walking (18 to 24
months old), 90% of the thoracolumbar kyphoses resolve.13 The
small percentage of kyphoses that persist can result in deformity
progression, hip flexion contractures, and hyperlordosis. In addi-
tion, the kyphosis can increase the severity of coexistent spinal
stenosis, resulting in neurologic compromise, such as paresthe-
sias, sciatic pain, inability to walk, and neurologic incontinence.
Bracing for thoracolumbar kyphosis in the patient with
achondroplasia is considered if the kyphosis is progressing and
is associated with vertebral wedging (Table 104.3). The patient
wears a double upright thoracolumbosacral orthosis full-time
while awake, and the brace is discontinued when the wedging
Algorithm for the Treatment
of Thoracolumbar
TABLE 104.3
Kyphosis in Patients with
Achondroplasia
Skeletally immature patient with achondroplasia and
thoracolumbar kyphosis with vertebral wedging
Progression?
Yes Consider bracing (thoracolumbosacral orthosis)
Progress beyond 50?
Yes Surgical treatment
No Clinical follow-up
No Clinical follow-up
Neurologic compromise?
Yes Surgical treatment
No Clinical follow-up
8/26/11 3:01:10 PM
 Chapter 104 Spinal Deformity in Skeletal Dysplasia Conditions 1091

resolves and the kyphosis out of the brace has decreased.
However, there are disadvantages to prescribing a brace to a
small child with poor muscle tone and possible developmental
delay. These disadvantages include increased difficulty with
ambulation and breathing. Therefore, bracing is not initiated
until a complete discussion has been conducted with the par-
ents regarding the risks and benefits of bracing.
When neurologic signs or symptoms are present or kyphosis
persists despite bracing, operative treatment is indicated.
However, as the natural history of persistent kyphoses is not
well described, it remains unclear at what degree the kyphoses
should be corrected and arthrodesis performed before the
development of neurologic symptoms. We believe kyphoses
greater than 50 are likely to develop a rigid angular kyphosis
and cause neurologic symptoms secondarily; therefore, we
operatively correct kyphoses with neurologic compromise or
those that measure more than 50 (Fig. 104.5).1 Surgery is opti-
mally delayed until the child is at least 4 years old (unless the
kyphosis is rapidly progressing) so that patient size can allow
for the use of spinal instrumentation (Fig. 104.6).

A B

C D

Figure 104.5. Preoperative posteroanterior (A) and lateral (B) radiographs of a 16-year-old patient with
achondroplasia and thoracolumbar kyphosis. Posteroanterior (C) and lateral (D) radiographs after posterior
spinal arthrodesis.

LWBK836_Ch104_p1084-1098.indd 1091 8/26/11 3:01:10 PM

 1092 Section IX Dysplastic and Congenital Deformities
A B
Surgical Considerations
A preoperative lateral hyperextension radiograph is obtained
with the patient positioned over a bolster to establish the goal for
correction and to determine the need for anterior release. The
patient is also able to report at that time if any neurologic changes
(e.g., pain) occur with hyperextension. Indications for an antero-
posterior arthrodesis include anterior impingement and a pedi-
cle size inadequate for pedicle screws. In the past, anterior
release has been indicated for a kyphosis larger than 50 on the
preoperative lateral hyperextension radiograph, but this crite-
rion is changing with the increased rigidity provided by pedicle
screw fixation (Fig. 104.7). Both pedicle subtraction osteotomies
and vertebral column resections are contraindicated in patients
with achondroplasia because the mismatch between the normal-
sized spinal cord and narrow spinal canal does not tolerate short-
ening. However, pedicle subtraction osteotomies or vertebral
column resections may be considered if the kyphosis remains
larger than 50 on the hyperextension lateral in patients with
other skeletal dysplasias.
If an anterior procedure is indicated, it is performed first,
before the posterior approach, under the same anesthetic or in
a staged setting. A retroperitoneal approach is used most often.
The 10th rib is removed and the diaphragm is detached. The
psoas is detached and mobilized. Segmental vessels are clamped
first and then ligated after neuromonitoring confirms the
absence of changes. Anterior release and discectomies are per-
formed. If there is anterior impingement or apical wedging,
anterior corpectomy with a strut graft is performed. If patient
size does not allow for the placement of pedicle screws, ante-
rior vertebral body screws are placed at each end of the seg-
ment to be arthrodesed, and rods are placed. Part of the
removed rib is placed into the arthrodesis site to act as a strut,
LWBK836_Ch104_p1084-1098.indd 1092
Figure 104.6. Preoperative (A) and
postoperative (B) lateral radiographs of
a 5-year-old child with achondroplasia
and progressive thoracolumbar kypho-
sis that required posterior spinal
arthrodesis.
and the remainder of the rib is placed in the disc spaces. A
chest tube is placed before closure.
The posterior approach is performed through a midline inci-
sion. A wide exposure out to the transverse processes facilitates
decompression, arthrodesis, and instrumentation. Laminectomy
is performed in the presence of coexisting spinal stenosis. Care is
taken not to interfere with facet joint capsules and interspinous
ligaments at the superior end of the arthrodesis.
Facetectomies and decortication are performed with a high-
speed burr and rongeur. The arthrodesis extends at least from
the proximal to the distal end Cobb vertebrae as identified on
preoperative radiographs. Proximally, if a decompression is
performed, the arthrodesis extends at least one level cephalad
to the most superior level of the laminectomy to avoid junc-
tional kyphosis. Distally, the arthrodesis is extended to the
sacrum with iliac screws if the lumbosacral junction is destabi-
lized by the decompression. In addition, arthrodesis to the
sacrum may be necessary if the lumbar spine is nonlordotic to
avoid junctional kyphosis. However, extending the arthrodesis
to the sacrum must be considered carefully because it may
result in difficulties with the personal hygiene.
Spinal instrumentation is used to improve correction and
decrease the need for postoperative immobilization (see earlier
discussion of instrumentation in patients with skeletal dyspla-
sias). Pedicle screws are placed at every level when possible.
After instrumentation, autologous bone graft from the iliac
crest(s) is placed. Drains are placed above and below the fas-
cia.1 Postoperatively, casting or bracing is not needed when
rigid pedicle screw fixation is achieved.
Thoracic or thoracolumbar kyphosis also occurs in Conradi
Hnermann syndrome, diastrophic dwarfism, metatropic
dwarfism, mucopolysaccharidoses, and spondyloepiphyseal
8/26/11 3:01:11 PM
 Chapter 104 Spinal Deformity in Skeletal Dysplasia Conditions 1093

A B

Figure 104.7. Preoperative poster-

oanterior (A) and lateral (B) radiographs
of a 12-year-old patient with Morquio
syndrome complicated by spinal stenosis
and kyphosis. Posteroanterior (C) and
lateral (D) radiographs after decompres-
C D
sion and posterior spinal arthrodesis.

dysplasia. The natural history of these conditions differs from
that of achondroplasia because resolution does not typically
occur. The surgical treatment of the kyphoses is similar to the
treatment described for achondroplasia.
Complications
Ain and Shirley4 described four patients with achondroplasia
who underwent a two-stage anterior and posterior spinal fusion
with anterior instrumentation for thoracic or thoracolumbar
kyphosis. Correction ranged from 23% to 31%, and there were
no complications. Ain and Browne1 reported on 12 patients with
achondroplasia (mean age 12 years), who underwent posterior
spinal arthrodesis with instrumentation (seven patients), antero-
posterior fusion with posterior instrumentation (two patients),
or no fusion with anterior instrumentation (three patients). Suc-
cessful fusion was obtained in all patients, and there were no
intraoperative or postoperative neurologic complications. The
mean improvement in the kyphosis was 50%. There were instru-
mentation failures in two patients and one dural leak.1

LWBK836_Ch104_p1084-1098.indd 1093 8/26/11 3:01:12 PM

 1094 Section IX Dysplastic and Congenital Deformities
Both rod failures occurred in the iliac rods of patients with
pelvic instrumentation and were caused by trauma after solid
fusion to the sacrum had been obtained.
SPINAL STENOSIS
Manifestations and Treatment
Spinal stenosis may occur in achondroplasia and Conradi
Hnermann syndrome. In the dysplastic spine, the pathophysi-
ology is related to the underlying congenital abnormalities of
each dysplasia. The cause and treatment of spinal stenosis in
achondroplasia has been described the most completely.7,16,17
In achondroplasia, the endochondral ossification defects
result in a narrowed spinal column that places the patient at
risk for spinal stenosis. The vertebral bodies are shortened and
enlarged at the superior and inferior aspects.17 The pedicles
are short and thickened by 30%. The interpediculate distance
decreases from L1 to L5, and the pedicle diameter increases in
the same direction.17 In addition, there is hyperplasia of the
intervertebral discs and ligamentum flavum. The result of these
abnormalities is an absolute reduction by 40% of the sagittal
and coronal diameter of the spine from the foramen magnum
to the sacrum.16 The spinal cord and neural elements are of
normal size. This disproportion between the narrow spinal
canal and the normal-sized neural elements places the individ-
ual with achondroplasia at risk for spinal stenosis.
These congenital abnormalities of the achondroplastic spine
may result in symptomatic spinal stenosis before 15 years of
age. However, more commonly over time, hypertrophy of the
ligamentum flavum and degenerative spondylotic stenosis of
the spinal canal aggravate the congenital stenosis, resulting in
symptomatic spinal stenosis in the third or fourth decade of
life. The incidence of symptomatic spinal stenosis increases
from 10% of 10-year-olds up to 80% of patients in the sixth
decade.10 One report has indicated that 24% of patients with
achondroplasia require surgery for spinal stenosis during their
lives.10 Surgical indications for spinal stenosis in patients with
skeletal dysplasias include progressive symptoms, urinary reten-
tion, severe claudication (symptoms after less than two city
blocks), and neurologic symptoms at rest. Lesser degrees of
compression can be managed nonoperatively.
Surgical Considerations
Surgical treatment of spinal stenosis in the patient with achon-
droplasia historically has been challenging and requires a sur-
geon experienced in such cases (Table 104.4). A complete
history and physical examination are sufficient to establish a
diagnosis of spinal stenosis and to identify the levels involved.
Computed tomography myelography and MRI are obtained for
surgical planning. Computed tomography myelography con-
firms the levels of stenosis. Myelography via a cervical instead
of lumbar puncture is preferred because of the technical diffi-
culties associated with the latter in the patient with achondro-
plasia. The myelogram produces distinctive features with
alternating levels of stenosis and filling defects, representing
areas corresponding to disc protrusion. MRI from the brain-
stem to the sacrum is obtained to identify basilar impression,
ArnoldChiari malformations, and syringomyelia and to help
establish how wide the decompression must extend at each
level.
LWBK836_Ch104_p1084-1098.indd 1094
Technical Tips for Surgical
TABLE 104.4 Decompression of Spinal
Stenosis in Achondroplasia
Obtain preoperative CT myelogram and MRI to establish location
and width of decompression.
Extend first decompression three levels cephalad to level of
myelographic block and two levels distal to the end of the
level of block.
Thin lamina with burr to visualize the inner table.
Explore both sides for lateral stenosis.
Evaluate for instability, and perform arthrodesis in all skeletally
immature achondroplasts to prevent postlaminectomy
kyphosis.
Use meticulous wound closure.
CT, computed tomography; MRI, magnetic resonance imaging.
To prevent restenosis, the selection of appropriate levels to
decompress is of utmost importance (Fig. 104.8). Typically,
there is focal compression at the cervicothoracic or thora-
columbar junction. After decompression, restenosis may occur
because of accelerated facet hypertrophy, bony overgrowth,
and scarring. Restenosis may also occur adjacent to the site of
the myelographic block or at the proximal or distal extents of
the initial decompression. Thus, focal decompression usually is
not successful. The first decompression should extend three
levels cephalad to the myelographic block and two levels distal
to the level at which the blockade opens.23 Rarely is total
craniospinal decompression required. However, this extensive
decompression is indicated for patients with clinically signifi-
cant cord compression at both the craniocervical and thora-
columbar areas.11 In one series of spinal decompressions in
patients with achondroplasia, only 13 out of 111 surgical patients
(12%) required this full decompression.30
After endotracheal intubation, the patient is placed in the
prone position. Positioning is easier on a Jackson table (rather
than a fixed frame such as the Wilson frame) because rolled
sheets and gel pads that conform to the patients trunk can be
used to accommodate contractures and the hyperlordotic lum-
bar spine. The Jackson table also allows fluoroscopic images if
pedicle screw fixation is desired.
Exposure for thoracolumbar laminectomies in the patient
with achondroplasia is difficult because of the severe lordosis
and encroachment of the iliac spines, which produce a deep
hollow. A long incision, from L3 to S2, is required. If additional
decompression is needed proximally, the incision is not
extended until the distal decompression is completed to mini-
mize blood loss. During exposure of the lamina, minimal elec-
trocautery is used lateral to the facet joints to prevent denerva-
tion and subsequent atrophy of the paraspinal muscles.
After the lamina of L4 through S3 are exposed, the lamina
medial to the facet joint is thinned with a burr to visualize the
inner table. The use of the burr makes laminectomy possible in
the tightly enclosed lumbosacral junction, which is not accessi-
ble via conventional instruments.30 The burr must be used until
the lamina is wafer-thin to avoid damaging neural elements
with the Kerrison punch and Leksell rongeurs. A keyhole is
made distally, and the Kerrison punch is then placed into the
epidural space to punch out the inner table.11 Leksell rongeurs
are used to complete the laminectomy. Laminectomy alone is
not sufficient for decompression, and the nerve root recesses
8/26/11 3:01:14 PM
 Chapter 104 Spinal Deformity in Skeletal Dysplasia Conditions 1095

A B

Figure 104.8. Preoperative poster-

oanterior (A) and lateral (B) radio-
graphs of a 61-year-old patient with
achondroplasia and recurrent stenosis
and kyphosis. Postoperative posteroan-
terior (C) and lateral (D) radiographs
after revision decompression and pos- C D
terior spinal arthrodesis.

LWBK836_Ch104_p1084-1098.indd 1095 8/26/11 3:01:14 PM

 1096 Section IX Dysplastic and Congenital Deformities
on both sides must be explored because lateral stenosis typi-
cally is present. Conservative decompression does not allow
extradural space for postoperative scar formation, and thus
scar formation will displace neural structures in an already
stenotic spinal canal. Hemostasis is achieved at each level before
moving proximally to the next level.
After completion of the often extensive decompression,
spinal stability must be evaluated. Instability usually does not
occur after the index decompression in the adult patient with
achondroplasia. However, in one series, Ain et al3 reported revi-
sion decompression that resulted in destabilization requiring
arthrodesis in four of eight adults. If decompression has
resulted in instability, pedicle screw fixation with bone graft is
performed as described in the preceding sections. In skeletally
immature patients with achondroplasia, postlaminectomy
kyphosis is a common complication and therefore requires
concurrent spinal arthrodesis.5 To improve correction of the
kyphosis and eliminate the need for extended postoperative
immobilization, instrumentation is also used in these skeletally
immature patients as well.
After decompression with instrumentation and arthrodesis
as needed, meticulous wound closure of the lumbosacral
region is critical to avoid formation of a pseudomeningocele.
A pseudomeningocele may form even without a dural tear
because of the thin nature of the dura. The wound is closed
by transposition of paraspinal muscles enveloped in fascia and
partially detached from the iliac spine. The medial edge of
the transposed muscle flap is sewn to the connective tissue at
the base of the opposite lamina to cover the dura.30 The oppo-
site paraspinal muscle is placed over the transposed flap to
collapse the dead space. Routine drains are placed.
Craniocervical and upper thoracic decompression is per-
formed as described in the section Foramen Magnum
Stenosis. If total craniospinal decompression is necessary, the
craniocervical area should be decompressed first because
potential cerebrospinal fluid leakage associated with lower tho-
racolumbosacral laminectomy could disturb the cerebrospinal
fluid dynamics at the craniocervical junction.30 Decompression
is extended from C1 distally to T8 with the bed in reverse
Trendelenburg position. The bed is then placed in the
Trendelenburg position for the remainder of the decompres-
sion. L3 to S3 is decompressed first, and then the decompres-
sion continues cephalad four segments at a time until T8 is
reached.
Complications
Complications of decompression for spinal stenosis in the
patient with achondroplasia include dural tears, incomplete
recovery, restenosis, urinary dysfunction, wound infection, and
the need for revision surgery.
The dural tear rate is high in the patient with achondropla-
sia because the dura is notoriously thin and fragile. In addition,
removing the ligamentum flavum, which often adheres to the
dura in a hyperlordotic spine with its lack of epidural fat to
cushion the dura from instruments, further increases the risk
of dural tears. In one series of 22 patients,23 dural tears were
reported in half of the cases, but in a more recent series,27 the
rate was 7% in 60 patients. If a dural tear occurs, the dura
should be closed with sutures and the repair should be supple-
mented with fibrin glue. Patients should then be kept in a flat
position for at least 72 hours.
LWBK836_Ch104_p1084-1098.indd 1096
Incomplete recovery may occur after decompression. In one
series of 20 patients with achondroplasia who underwent
laminectomies, neurologic deficits improved in 14 patients.29
Severe preoperative deficits, including paraplegia and sphinc-
ter dysfunction, did not improve substantially unless treated
acutely29: 60% had urinary dysfunction, 35% developed a uri-
nary tract infection, and one patient had wound necrosis that
required operative debridement.29
Restenosis may also occur after decompression. Pyeritz
et al23 reviewed 22 patients with achondroplasia who underwent
laminectomies for spinal stenosis. Nine patients required addi-
tional decompression at an average of 3.3 years after the first
surgery (range 3 months to 9 years). If restenosis occurs, revi-
sion surgery is associated with an increased risk of nerve injury,
instability, and dural tears.3 Surgery for restenosis can result in
improvements in strength, claudication, pain level, bladder dys-
function, bowel disturbance, and neurologic symptoms. The
benefits of revision surgery appear to outweigh the risks.3
Sciubba et al27 reviewed 44 pediatric patients (average age at
surgery 12.7 years; range 5 to 21 years) with achondroplasia
who underwent 60 decompressive procedures, of which 11 were
revision surgeries. There were complications in 11% of cases:
four dural tears, two wound breakdowns, and one instrumenta-
tion failure.27 Reasons for revision surgery included progressive
deformity in the nonfused spine (five cases), decompression of
junctional stenosis (five cases), and repeat decompression at
same levels (one case).
SCOLIOSIS
Manifestations and Treatment
Scoliosis and kyphoscoliosis are also associated with several
skeletal dysplasias, including chondrodysplasia punctata, dia-
strophic dwarfism, metatropic dwarfism, Morquio syndrome,
pseudoachondroplasia, and spondyloepiphyseal dysplasia con-
genita. Different types of curves may be found, depending on
the dysplasia with which the scoliosis occurs.
In patients with chondrodysplasia punctata, scoliosis occurs
in two patterns: (1) slowly progressive without dysplastic verte-
brae and (2) rapidly progressive with dysplastic vertebrae.18
Treatment of the slowly progressive type is similar to that of
idiopathic scoliosis. Patients with the dysplastic type cannot be
treated with short fusions or hemiepiphysiodesis as are those
with congenital scoliosis because all vertebral bodies are poten-
tially dysplastic.
In patients with diastrophic dysplasia, up to 90% of patients
have scoliosis,25 which are divided into three subtypes: mild
nonprogressive, idiopathic like, and early progressive.25 The
early progressive type is similar to the progressive form of infan-
tile idiopathic scoliosis and is characterized by an age of less
than 3 years at onset, a severe degree of rotation, and a rapid
rate of progression.25 Without treatment, these curves may
progress to more than 100.25
Severe scoliosis occurs in patients with metatropic dysplasia,
spondyloepiphyseal congenita, and spondyloepimetaphyseal dys-
plasia. Scoliosis in patients with metatropic dysplasia is character-
istically rigid. In patients with spondyloepiphyseal congenita, the
scoliosis occurs early in life and is often resistant to bracing.
Severe kyphoscoliosis in patients with spondyloepimetaphyseal
dysplasia can present within the first 2 years of life and may prog-
ress rapidly to cause paraplegia or cor pulmonale.31
8/26/11 3:01:15 PM
 Chapter 104 Spinal Deformity in Skeletal Dysplasia Conditions
A B
Figure 104.9. Preoperative posteroanterior (A) and lateral (B) radiographs of a 9-year-old child with
spondyloepiphyseal dysplasia and scoliosis. Postoperative posteroanterior (C) and lateral (D) radiographs
after treatment with growing rod instrumentation.
Not all curves that occur in patients with skeletal dysplasias
are severe and require operative treatment. In pseudoachon-
droplasia, curves usually do not progress to more than 50,13 so
surgery typically is not required.
Surgical Considerations
In general, treatment guidelines for scoliosis in the skeletal
dysplasias are similar to those for idiopathic scoliosis. Bracing
is indicated for curves between 25 and 45. Curves may be
more resistant to bracing than those in idiopathic scoliosis.
Posterior spine arthrodesis is indicated for curves greater than
50. The current trend is to use growing rod instrumentation
in younger patients, that is, those with wide open triradiate
cartilages, and to delay definitive arthrodesis until the patient
is older (Fig. 104.9).
The indications for concurrent anterior release and arthro-
desis have changed with increasing use of pedicle screws.
Historically, anteroposterior arthrodesis was performed in
younger patients, that is, those with wide open triradiate carti-
lages, or for curves with severe scoliosis or kyphosis because this
procedure had achieved superior results.9,18,19,31 However, with
the increased rigidity control achieved with pedicles screws, iso-
lated posterior arthrodesis with pedicle screws at every level
may be considered an option in patients with varying degrees
of severe scoliosis or kyphosis.
Preoperative evaluations of patients with kyphoscoliotic defor-
mities are exceptionally important because these patients are
associated with a high risk of paraplegia, severe respiratory insuf-
ficiency, cor pulmonale, and death. The pulmonary status must
LWBK836_Ch104_p1084-1098.indd 1097
1097
C D
be considered carefully before and after surgery. Positioning and
instrumentation techniques for scoliosis surgery in patients with
skeletal dysplasias have been described in preceding sections of
this chapter. The techniques and complications of scoliosis sur-
gery are described elsewhere in this book.
Complications
Complications of surgery for scoliosis are similar to those
described for idiopathic scoliosis. Instrumentation may be
more difficult because of the smaller size and altered pedicle
morphometry requiring smaller-sized implant systems. In addi-
tion, increasing kyphoscoliosis places patients at risk for pseu-
darthrosis spinal implant failure.
CONCLUSIONS
In summary, most skeletal dysplasias are associated with spinal
abnormalities, including foramen magnum stenosis, atlantoax-
ial instability, cervical kyphosis, thoracolumbar kyphosis, spinal
stenosis, and scoliosis. The spine surgeon needs to be aware of
the spinal abnormalities associated with each dysplasia, includ-
ing the dysplasias associated with atlantoaxial instability. When
surgical intervention is chosen, a thorough preoperative evalu-
ation must be obtained because of the potential coexisting
medical comorbidities. Finally, these surgeries should be per-
formed at institutions with experience in providing care for
these patients.
8/26/11 3:01:15 PM
 1098 Section IX Dysplastic and Congenital Deformities

17. Lutter LD, Longstein JE, Winter RB, et al. Anatomy of the achondroplastic lumbar canal.
REFERENCES Clin Orthop Relat Res 1977;126:139142.
18. Mason DE, Sanders JO, Mackenzie WG, et al. Spinal deformity in chondrodysplasia punc-
1. Ain MC, Browne JA. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis
tata. Spine 2002;27:19952002.
in pediatric achondroplasia. Spine 2004;29:20752080.
19. Matsuyama Y, Winter RB, Lonstein JE. The spine in diastrophic dysplasia. The surgical
2. Ain MC, Chaichana KL, Schkrohowsky JG. Retrospective study of cervical arthrodesis in
arthrodesis of thoracic and lumbar deformities in 21 patients. Spine 1999;24:23252331.
patients with various types of skeletal dysplasia. Spine 2006;31:E169E174.
20. Miyoshi K, Nakamura K, Haga N, et al. Surgical treatment for atlantoaxial subluxation with
3. Ain MC, Elmaci I, Hurko O, et al. Reoperation for spinal restenosis in achondroplasia.
myelopathy in spondyloepiphyseal dysplasia congenita. Spine 2004;29:E488E491.
J Spinal Disord 2000;13:168173.
21. Oberklaid F, Danks DM, Jensen F, et al. Achondroplasia and hypochondroplasia. Com-
4. Ain MC, Shirley ED. Spinal fusion for kyphosis in achondroplasia. J Pediatr Orthop
ments on frequency, mutation rate, and radiological features in skull and spine. J Med
2004;24:541545.
Genet 1979;16:140146.
5. Ain MC, Shirley ED, Pirouzmanesh A, et al. Postlaminectomy kyphosis in the skeletally
22. Ofiram E, Lonstein JE, Skinner S, et al. The disappearing evoked potentials: a special
immature achondroplast. Spine 2006;31:197201.
problem of positioning patients with skeletal dysplasia. Case report. Spine 2006;31:
6. Bagley CA, Pindrik JA, Bookland MJ, et al. Cervicomedullary decompression for foramen
E464E470.
magnum stenosis in achondroplasia. J Neurosurg 2006;104:166172.
23. Pyeritz RE, Sack GH Jr, Udvarhelyi GB. Thoracolumbosacral laminectomy in achondropla-
7. Bailey JA II. Orthopaedic aspects of achondroplasia. J Bone Joint Surg Am 1970;52:
sia: long-term results in 22 patients. Am J Med Genet 1987;28:433444.
12851301.
24. Remes V, Marttinen E, Poussa M, et al. Cervical kyphosis in diastrophic dysplasia. Spine
8. Bethem D, Winter RB, Lutter L. Disorders of the spine in diastrophic dwarfism. A discus-
1999;24:19901995.
sion of nine patients and review of the literature. J Bone Joint Surg Am 1980;62:529536.
25. Remes V, Poussa M, Peltonen J. Scoliosis in patients with diastrophic dysplasia: a new
9. Bethem D, Winter RB, Lutter L, et al. Spinal disorders of dwarfism. Review of the literature
classification. Spine 2001;26:16891697.
and report of eighty cases. J Bone Joint Surg Am 1981;63:14121425.
26. Remes VM, Marttinen EJ, Poussa MS, et al. Cervical spine in patients with diastrophic
10. Hunter AGW, Bankier A, Rogers JG, et al. Medical complications of achondroplasia: a
dysplasiaradiographic findings in 122 patients. Pediatr Radiol 2002;32:621628.
multicentre patient review. J Med Genet 1998;35:705712.
27. Sciubba DM, Noggle JC, Marupudi NI, et al. Spinal stenosis surgery in pediatric patients
11. Hurko O, Uematsu S. Neurological considerations in skeletal dysplasias. Neurosurg Q
with achondroplasia. J Neurosurg 2007;106:372378.
1993;3:192217.
28. Srikumaran U, Woodard EJ, Leet AI, et al. Pedicle and spinal canal parameters of the lower
12. Johnston CE II, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen syn-
thoracic and lumbar vertebrae in the achondroplast population. Spine 2007;32:
drome. J Bone Joint Surg Am 1996;78:538545.
24232431.
13. Kopits SE. Orthopedic complications of dwarfism. Clin Orthop Relat Res 1976;114:153179.
29. Streeten E, Uematsu S, Hurko O, et al. Extended laminectomy for spinal stenosis in achon-
14. Laville JM, Lakermance P, Limouzy F. Larsens syndrome: review of the literature and
droplasia. Basic Life Sci 1988;48:261273.
analysis of thirty-eight cases. J Pediatr Orthop 1994;14:6373.
30. Uematsu S, Wang H, Kopits SE, et al. Total craniospinal decompression in achondroplastic
15. LeDoux MS, Naftalis RC, Aronin PA. Stabilization of the cervical spine in spondyloepiphy-
stenosis. Neurosurgery 1994;35:250257, comments 257258.
seal dysplasia congenita. Neurosurgery 1991;28:580583.
31. Winter RB, Bloom BA. Spine deformity in spondyloepimetaphyseal dysplasia. J Pediatr
16. Lutter LD, Langer LO. Neurological symptoms in achondroplastic dwarfssurgical treat-
Orthop 1990;10:535539.
ment. J Bone Joint Surg Am 1977;59:8792.

LWBK836_Ch104_p1084-1098.indd 1098 8/26/11 3:01:16 PM