Congenital Scoliosis

Introduction
Congenital scoliosis is the failure of normal vertebral
development during 4th to 6th week of gestation
caused by developmental defect in the formation of the
mesenchymal anlage
Epidemiology
incidence
prevalence in general population estimated at 1%
to 4%
Causes
most cases occur spontaneously
maternal exposures
diabetes
alcohol
valproic acid
hyperthermia
genetic
knowledge evolving
notch gene
Associated conditions
may occur in isolation or with associated conditions
with associated systemic anomalies, up to 61%
cardiac defects - 10%
genitourinary defects - 25%
spinal cord malformations
with underlying syndrome or chromosomal abnormality
VACTERL syndrome
in 38% to 55%
characterized by vertebral malformations, anal atresia, cardiac
malformations, tracheo-esophageal fistula, renal, and radial
anomalies, and limb defects
Goldenhar/OculoAuricularVertebral Syndrome
hemifacial microsomia and epibulbar dermoids
Jarcho-Levin Syndrome/Spondylocostal dysostosis
short trunk dwarfism, multiple vertebral and rib defects and fusion
most commonly autosomal recessive
often associated with thoracic insufficiency syndrome (TIS)
caused by shortening of the thorax and rib fusions
result is thorax is unable to support lung growth and
respiratory decompensation
Klippel-Feil syndrome
short neck, low posterior hairline, and fusion of cervical vertebrae
Alagille syndrome
peripheral pulmonic stenosis, cholestasis, facial dysmorphism
Prognosis
progression
 most rapid in the first 3 years of life
determined by the morphology of vertebrae. Rate of progression from
greatest to least is:
unilateral unsegmented bar with contralateral hemivertebra >
greatest potential for rapid progression (5 to10 degrees/year)
unilateral unsegmented bar >
fully segmented hemivertebra >
unsegmented hemivertebra >
incarcerated hemivertebra >
unincarcerated hemivertebra >
block vertebrae
little chance for progression (<2 degrees/year)
presence of fused ribs increases risk of progression
Outcomes
dependent on potential for progression and early intervention

Classification
Classification of Congenital Scoliosis
Failure of Fully segmented hemivertebra 1
Formation (has normal disc space above and below)
Semisegmented hemivertebra
(hemivertebra fused to adjacent vertebra on one side with disk
on the other)
Unsegmented hemivertebra 1
(hemivertebra fused to vertebra on each side)
Incarcerated hemivertebra 1
(found within lateral margins of vertebra above and below)
Unincarcerated hemivertebra 1,2
(laterally positioned)
Wedge vertebra 1
Failure of Block vertebra 1,3
Segmentation (bilateral bony bars)
Bar body 1
(unilateral unsegmented bar is common and likely to progress)
Mixed Unilateral unsegmented bar with contralateral hemivertebra
(most rapid progression) 1,4

1
 2,3 4

Imaging
Radiographs
recommended views
AP and lateral plain films usually sufficient to confirm diagnosis
CT
indications
judicious use recommended due to radiation exposure
3D CT useful to better delineate posterior bony anatomy and define type for
surgical planning
MRI
indications
all patients with congenital scoliosis prior to surgery to evaluate for neural
axis abnormality (found in 20-40%) including
Chiari malformation
tethered cord
syringomyelia
diastematomyelia
intradural lipoma
technique
sedation required in infants so may be delayed if no surgery is planned and
no neuro deficits
Additional medical studies
important to obtain studies for associated abnormalities
renal ultrasound or MRI
echocardiogram if suspicion for cardiac manifestations
Treatment
Nonoperative
observation and bracing
indications for observation
absence of documented progression, ie:
incarcerated hemivertebrae
nonsegmental hemivertebrae
some partially segmented hemivertebrae
bracing
 not indicated in primary treatment of congenital scoliosis (no
effectiveness shown)
may be used to control supple compensatory curves
Operative
in situ posterior fusion
indications
older patients with significant progression, neurologic deficits, or
declining respiratory function
girls > 10 yrs
boys > 12 yrs
anterior/posterior spinal fusion +/- vertebrectomy
indications
young patients with significant progression, neurologic deficits, or
declining respiratory function
girls < 10 yrs
boys < 12 yrs
patients with failure of formation with contralateral failure of
segmentation at any age
technique
nutritional status of patient must be optimized prior to surgery
growing rod construct
indications
may be used in an attempt to control deformity during spinal growth
and delay arthrodesis
outcomes
need to be lengthened approximately every 6 months for best results
VEPTR (vertical expanding prosthetic titanium rib) 5,6
indications
thoracic insufficiency syndrome
outcomes
long-term follow up is needed to determine efficacy

5 6

Techniques
Spinal arthrodesis +/- vertebrectomy/osteotomy
in situ arthrodesis, anterior/posterior or posterior alone
indications
 unilateral unsegmented bars with minimal deformity
hemiepiphysiodesis
indications
intact growth plates on the concave side of the deformity
patients less than 5 yrs. with < 40-50 degree curve
mixed results
osteotomy
osteotomy of bar
hemivertebrectomy
hemivertebrae with progressive curve causing truncal imbalance and oblique takeoff
often caused by a lumbosacral hemivertebrae
patients < 6 yrs. and flexible curve < 40 degrees best candidates
spinal column shortening resection
indications
deformities that present late and have severe decompensation
rigid, severe deformities
pelvic obliquity, fixed
Complications
Crankshaft phenomenon
a deformity caused by performing posterior fusion alone
Short stature
growth of spinal column is affected by fusion
younger patients affected more
Neurologic injury
surgical risk factors include
overdistraction or shortening
overcorrection
harvesting of segmental vessels
somatosensory and motor evoked potentials important
Soft-tissue compromise
nutritional aspects of care essential to ensure adequate soft tissue healing

OBQ12.14) The parents of a 14-month-old boy bring their child into your office. They state the
child has reached developmental milestones at appropriate ages, but noticed he was leaning to one
side when standing or walking. A radiograph was obtained demonstrating a non-flexible 40-degree
curve with multiple vertebral anomalies, highlighted by a convex segmented hemivertebra
associated with a concave unilateral bar. After ensuring that the patient has no other associated
anomalies in other organ systems, an MRI of the spine revealed no intraspinal abnormalities. What
treatment would you recommend to the family? Review Topic

1. Continued observation with annual follow up

2. Risser Casting
3. VEPTR
4. Instrumentation with growing rods without fusion
5. Excision of the hemivertebra with short segment posterior instrumented fusion

PREFERRED RESPONSE 5
The clinical presentation is consistent with congenital scoliosis with a convex segmented
hemivertebra (failure of formation) associated with a concave unilateral bar (failure of separation).
The most appropriate treatment is excision of the hemivertebra with short segment posterior
instrumented fusion.
In congenital scoliosis the risk of progression is determined by the morphology of vertebrae.
The worst prognosis comes when there is a unilateral unsegmented bar with contralateral
hemivertebra. This morphology universally progresses, and therefore surgical fusion is required
regardless of age and deformity.
Akbarnia et al. reviews treatment options for very young children with spinal deformities. He
states that a hemivertebrectomy is an effective treatment for congenital scoliosis, and that it is most
commonly done through a combined anterior and posterior approach. While a posterior only
approach is possible, the author cautions that one must watch closely for deformity progression and
the development of the crankshaft phenomenon.
Holte et al. retrospectively reviewed the results of anterior and posterior hemivertebra
excision or wedge resection plus arthrodesis in 37 patients with congenital scoliosis. The average
curved decreased from 54 degrees preoperatively to 33 degrees post operatively. Minimal
progression of the curve was detected over 12 years of follow up.
King et al. reported on nine patients with progressive congenital scoliosis, including one patient
who was only 12 months old. All patients underwent a posterior only, transpedicular anterior
hemiepiphysiodesis of at least one hemivertebra and posterior fusion. They reported that curve
progression was stopped in all cases, and four of the nine patients had a correction in the curve of
10 degrees or more.
Illustration A shows classification of the types of congenital scoliosis. Illustration B shows a
radiograph of a hemivertebrae with a contralateral unsegmented bar.
Incorrect Answers:
Answer 1--Continued observation with annual follow up. This answer is wrong, because the patient
has vertebral anomalies that will progress without intervention.
Answer 2--Risser Casting. This answer is incorrect because while Risser casting is used to treat
young children with scoliosis, it is unlikely to be effective in patients with a convex segmented
hemivertebra (failure of formation) associated with a concave unilateral bar (failure of separation)
Answer 3--VEPTR--The primary indication for VEPTR insertion is patients with scoliosis and
Thoracic Insufficiency Syndrome--a disorder defined by the Scoliosis Research Society as "the
inability of the thorax to support normal respiration or lung growth." While VEPTR may be
indicated for other patients with congenital scoliosis, answer 5 avoids the morbidity associated with
frequent lengthening and results in less fusion levels.
Answer 4--Instrumentation with growing rods without fusion--Similar to the VEPTR, the growing
rod may be used in patients with progressive congenital scoliosis. Again, answer 5 avoids the
morbidity associated with frequent lengthening and results in less fusion levels.

Illustration A

Illustration B
(OBQ07.220) Figure A demonstates different anatomic patterns in congenital scoliosis. Which
pattern has the worst prognosis and is an indication for surgery. Review Topic
FIGURES: A

Figure A

1. Illustration 1 2. Illustration 2 3. Illustration 3 4. Illustration 4 5. Illustration 5

PREFERRED RESPONSE 5
Congenital scoliosis is caused by anatomic anomalies of the vertebral bodies. The different type of
anomalies can be divided into failure of formation (hemivertebrae, wedge vertebrae, butterfly
vertebrae) and failure of segmentation (block vertebrae, bar body). The worst situation is when
there is failure of formation with contralateral failure of segmentation. An example of this is a
hemivertebrae with a contralateral bar body as depicted in Illustration 5. This has the worst
prognosis and is an indication for surgery.

(OBQ05.116) A 2-year-old girl presents to the office for

evaluation of spinal deformity. A radiograph is shown in
Figure A. What additional work-up should be done? Review
Topic
FIGURES: A

1. HLA-B27
2. Echocardiography
3. Bone scan with SPECT images
4. Skeletal survey
5. Electromyogram

PREFERRED RESPONSE 2
The radiograph demonstrates congenital scoliosis with defects in formation (resulting in the
hemivertebrae) and segmentation. Basu et al assessed the incidence of intraspinal anomalies and
other organic defects associated with different types of congenital spinal deformity using MRI,
echocardiography, renal ultrasound, and a thorough clinical assessment. Intraspinal abnormalities
were found in 37% of patients - more commonly in those with congenital kyphosis and scoliosis
resulting from mixed and segmentation defects. Cardiac defects were detected in 26% and
urogenital anomalies in 21% of patients. Based on their finding, they argue magnetic resonance
imaging and echocardiography should be an essential part in the evaluation of patients with
congenital spinal deformity. Renal ultrasound should be considered, although a complete spine MRI
may detect renal pathology as well.