SECTION
Dysplastic and Congenital Deformities
CHAPTER
101
Introduction/State of the Art in the
Care of Dysplastic and Congenital
Spine Deformities
Over the last 10 years, advancements in area of dysplastic and
congenital spine deformities have centered on early diagnosis,
radiographic imaging, preoperative medical care, and surgical
treatment.
EARLY DIAGNOSIS
Genetic testing has improved the ability to identify many dis-
ease processes, some with direct musculoskeletal implications
(e.g., familial dysautonomia and myelomeningocele).2,3 The
goal of early disease identification is to prevent or minimize the
natural history of the disease and/or the clinical manifesta-
tions. The implications of appropriate early intervention are
exciting in the area of the immature spine and improving the
outcome of spinal deformity treatment in these challenging
dysplastic and congenital problems.
IMAGING
Advancements in radiologic imaging (computed tomography
(CT) and magnetic resonance imaging (MRI)) have dramati-
cally improved the understanding of spinal deformity. MRI is
currently the best three-dimensional noninvasive soft tissue
imaging modality available. With improvements in technology
has come better evaluation of the spinal cord, disc spaces, end
plates, and facet joints and its associated pathologies such as
tumors, dural ectasias, tethered cords, diastematomyelia,
LWBK836_Ch101_p1059-1061.indd 1059
IX
Scott J. Luhmann
basilar invagination, foramen magnum stenosis, spinal stenosis,
syrinx, ArnoldChiari malformations, etc. Because of this total
spine MRI (occiput through sacrum) is frequently obtained for
patients with neurofibromatosis (NF), Marfans syndrome
(MFS), skeletal dysplasias, osteogenesis imperfecta (OI), con-
genital scoliosis, and those with any suspected neural axis
abnormality.1,5,6 With continued advancements in the area of
dynamic MRI and upright MRI scanning, the knowledge of spi-
nal deformity will undoubtedly continue to expand.
Similar to MRI, improvements in CT scanners and imaging
software have permitted unparalleled imaging detail of the
bony anatomy of the spine. Three-dimensional reconstructions
of CT images provide the surgeon with highly accurate and
detailed representations of pathologic bony anatomy, such as
laminar fusions, anterior vertebral bars, occult spina bifida, and
abnormally shaped vertebral bodies. This knowledge improves
the ability in establishing spine fixation options and overall sur-
gical strategies for correction of spine deformity. As in MRI,
preoperative CT imaging has been recommended in NF, MFS,
skeletal dysplasias, OI, congenital scoliosis, and thoracic insuf-
ficiency syndrome (TIS). In TIS, the use of CT has also aided in
the understanding of thoracic bony structure, biomechanics,
and lung volumes.
PREOPERATIVE MEDICAL CARE
Along with improvements in the surgical treatment of spine
deformities the gains in pediatric medical care have been
1059
8/26/11 3:02:21 PM
 1060 Section IX Dysplastic and Congenital Deformities
significant. Many of these patients have concomitant medical
conditions that impact the care of the spinal deformity, whether
nonoperative or operative based. The advancements in cardiol-
ogy, pulmonary, renal, and genitourinary medical care have
made significant strides in improving the patients function and
outcome after surgery. In familial dysautonomia (FD), spine
deformity surgery was previously extremely high risk, and usu-
ally contraindicated, but development of highly experienced
centers experienced in FD has made surgical treatment a real-
ity for many patients.
SURGICAL TREATMENT
Nonsurgical management options for most of the dysplastic
and congenital spine deformities have little positive impact on
the natural history of the spine deformity (i.e., MFS, OI, FD).
Hence surgical treatment is important for these patients. Fusion
surgery remains the most commonly performed technique in
these patients, especially in the adolescent patient who is at or
near skeletal maturity (NF, MFS, OI). Over the last 15 years, the
surgical care of these patients has dramatically changed with
the use of pedicle screws, hemivertebra excisions, posterior-
based osteotomies (pedicle subtraction osteotomies (PSOs)
and vertebral column resections (VCRs)), and expandable
spine constructs (growing rods and vertical expandable pros-
thetic titanium rib (VEPTR)).
PEDICLE SCREWS
The evolution of spine fixation to the routine use of pedicle
screws has improved the ability to correct and maintain the cor-
rection of the spinal deformity. The use of first-generation
hook and second-generation hybrid spine constructs remains
viable, however, may need to be combined with other adjunc-
tive strategies (i.e., anterior release and fusion) to obtain and
maintain spine deformity correction. Pedicle screws have been
demonstrated superiority in biomechanical fixation, correction
of spine deformity, obviate the need for anterior spinal releases,
and improve fusion rates. These advantages are magnified in
conditions in which there is pathologic bony anatomy or qual-
ity (NF, MFS, OI, etc.). Despite this improved fixation of pedi-
cle screws, the use of anterior fusions may be helpful if posterior
fixation affords inadequate fixation and correction. In addi-
tion, the development of posterior-based osteotomies, such as
the VCRs, requires the use of pedicle screws in order to control
the destabilized spinal column.
HEMIVERTEBRA EXCISIONS
Classic treatment of congenital scoliosis has been a convex
hemiepiphysiodesis in young children, which is designed to
tether the convex side of the spine and prevent further progres-
sion. This technique has not delivered consistent results and
has fallen into disfavor. At present posterior-only and combined
anterior/posterior hemivertebra excisions are the optimal
technique for the isolated hemivertebra. Early surgical resec-
tion has demonstrated better results when performed prior to
the development of permanent changes. In the deformity with
multiple hemivertebra or the mixed type of congenital scoliosis,
LWBK836_Ch101_p1059-1061.indd 1060
other treatment strategies including growing spine constructs
are likely better options but may include hemivertebra excision
as part of the overall plan.
POSTERIOR-BASED OSTEOTOMIES
Use of PSOs and VCRs has significantly expanded the surgi-
cal repertoire of the spine deformity surgeon. Severe sagittal
and coronal plane deformities can be successfully treated
with posterior-only PSOs and VCRs. Avoiding violation of the
abdominal or thoracic cavity has advantages to all patients
but is required for those with FD due to their impaired pul-
monary function. As mentioned, these osteotomies require
the use of pedicle screw fixation and due to the pathologic
bone typically require anterior column support. Biologic
anterior support (fibular strut or femoral ring allograft)
must be utilized with caution in some diagnoses, such as in
NF, where the tumor can invade the graft and cause graft
resorption.
EXPANDABLE SPINE CONSTRUCTS
The goal of surgical treatment is to correct spinal deformity,
prevent progression, and maximize the longitudinal length.
This can be achieved through short-segment fusions, fusionless
technologies, or both. The surgical treatment of each patient
depends on multiple factors, such as age of the patient, loca-
tion and length of the deformity, global spinal balance, chest
wall deformity, and concomitant medical problems and diagno-
ses. In addition, timing of the surgical procedure can be just as
important as the type of surgical treatment. Long fusions per-
formed at an early age are to be avoided as irreparable shorten-
ing of the spine occurs with concomitant poor pulmonary
function.
Early prophylactic surgery can be a treatment option when
the natural history of the particular deformity is known to be
progressive and require a future surgery. Conceptually, this
type of approach tries to minimize morbidity and maximize
function when compared with the surgery that may be needed
to manage a particular deformity if permitted to follow its
natural history. Examples of this type of approach are hemiver-
tebra excision, growing rods, and VEPTR. Important to this
type of surgery is the ability to correctly identify the magni-
tude and rapidity of the progression. The use of growing
rod constructs has been successful in skeletally immature
patients with NF, congenital scoliosis, OI, and MFS. The opti-
mal patient for this type of construct is one whose pathology is
spine based, specifically with no or minimal rib or thoracic
pathology.
For those patients with significant rib pathology or thoracic
deformity, use of the VEPTR device appears optimal. This
device optimizes the alignment of the ribs and thorax to
improve the short-term chest volume but also allow more nor-
mal long-term growth and development. Over the last 15
years, the intricate relationship between the growth/develop-
ment of the thorax and the spine has become better under-
stood. The concept of TIS, defined as the inability of the tho-
rax to support normal respiration or lung growth, has
appropriately refocused attention on the patients pulmonary
function.4 Early intervention (i.e., VEPTR) in selected cases,
8/26/11 3:02:21 PM
 Chapter 101 Introduction/State of the Art in the Care of Dysplastic and Congenital Spine Deformities
such as those with significant thoracic dysplasia, has been
demonstrated to create better lung volumes. The most impor-
tant component of TIS is loss of thoracic volume from defor-
mity and its effect on respiration; hence, the surgical interven-
tion is aimed to restore volume and function of the thorax
while permitting growth. The development of the VEPTR was
driven by the need for an implant system to deal with the
lethal thoracic insufficiency diagnoses such as Jeunes asphyx-
iating thoracic dystrophy and JarchoLevin syndrome. This
system mainly aims its correction at the thorax and second-
arily at any concomitant spinal deformity.
LWBK836_Ch101_p1059-1061.indd 1061
1061
REFERENCES
1. Altman NR, Altman DH. MR imaging of spinal dysraphism. Am J Neuroradiol 1987;8:
533538.
2. Axelrod FB. Familial dysautonomia. Muscle Nerve 2004;29:352363.
3. Bruno JP, Tulipan N, Paschall RL, et al. Fetal surgery for myelomeningocele and the inci-
dence of shunt-dependent hydrocephalus. JAMA 1999;282:18191825.
4. Campbell RM, Smith MD, Mayes TC, et al. The characteristic of thoracic insufficiently syndrome
associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am 2003;85:399408.
5. Janus GJ, Engelbert RH, Beek E, Gooskens RH, Pruijs JE. Osteogenesis imperfecta in child-
hood: MR imaging of basilar impression. Eur J Radiol 2003;47:1924.
6. Kovero O, Pynnonen S, Kuurila-Svahn K, Kaitila I, Waltimo-Siren J. Skull base abnormalities
in osteogenesis imperfecta: A cephalometric evaluation of 54 patients and 108 control vol-
unteers. J Neurosurg 2006;105:361370.
8/26/11 3:02:21 PM