This document discusses congenital spine deformities and their physiotherapy management. It begins by introducing the three main groups of congenital spine malformations: neural tube defects, failure of segmentation, and failure of formation. It then describes specific conditions like spina bifida, scoliosis, and Klippel-Feil syndrome. Surgical treatments for various deformities are discussed such as growing rod surgery, VEPTR, and resection with fusion. Post-operative physiotherapy focuses on range of motion, strengthening, bracing, and mobility training depending on the specific condition and level of involvement. Exercises and management strategies are tailored for different deformities and surgery types.

1. Sreeraj S R
Physiotherapy for
Congenital Spine Deformities
Dr Sreeraj S R, Ph.D.

2. Sreeraj S R
Introduction
• Result of anomalous vertebral development in
the embryo.
• Congenital malformations of the spine/cranium
can be classified into three main groups:
1. Neural tube defect
2. Failure of segmentation
3. Failure of formation.
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Neural Tube Deformities
• Incomplete closure of the neural tube in-utero.
• Subdivided into :
1. Open: the failure is primary neurulation
(formation of neural tube)
2. Closed: the structural deformities are mostly
limited to the spinal cord.
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Cortazar AZ et al, 2013

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Features of the Chiari II malformation, compared with normal anatomy (left
panel)
Sandler A. D. (2010)

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Dysraphism
• Dysraphism = incomplete fusion
• Spinal dysraphism is an umbrella term that describes several
conditions present at birth that affect the spine, spinal cord, or
nerve roots.
• Spinal dysraphism can be broadly divided into:
1. Open Spinal Dysraphism (spina bifida aperta or cystica): occurs
when the cord and its covering communicate with the outside.
2. Closed Spinal Dysraphism (spina bifida occulta): occurs when the
cord is covered by other normal mesenchymal elements
• Cranial dysraphism (failure of cranial neural tube closure)
includes anencephaly, encephaloceles and several other types of
midline skull defects.
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Failure of Segmentation
• The vertebrae are
fused together and
cause congenital:
1. Kyphosis,
2. Lordosis,
3. Scoliosis,
4. Klippel-Feil syndrome
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https://tinyurl.com/7ur9rdm3

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Klippel-Feil syndrome
Clinically by presence of triad
of:
1. Short neck,
2. Limited neck movements,
and
3. Low posterior hair line.
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Mahirogullari M et al, 2006 Case courtesy of Dr Bassem Marghany,
Radiopaedia.org, rID: 75116

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Failure of Formation
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• Absence of a
structural element of a
vertebra.
• Typical observable
defects are
Hemivertebrae or
Wedge vertebrae.
• Examples are:
1. Congenital kyphosis
2. Congenital Scoliosis
https://tinyurl.com/7ur9rdm3

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Mx/Sx Management
• Growing rod surgery.
• VEPTR
• Resection and Fusion
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Growing Rod Surgery
• This surgical technique uses two rods, placed
on either side of the spine, with connectors.
• The rods are lengthened every 6 months
through the connectors until the skeletal
structure matures, at which time the growing
rods are removed and the patient undergoes
final fusion surgery.
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Growth-guided Shilla procedure
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SpineUniverse. 2017

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VEPTR
• Vertical Expandable Prosthetic Titanium Rib
• Thoracic insufficiency syndrome (TIS) is
instability of the thorax to support normal
respiration or lung growth.
• TIS is caused by three types of congenital and
acquired pathologies:
1. Type I: rib absence and scoliosis
2. Type II: fused ribs and scoliosis and
3. Type III: hypoplastic thorax
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VEPTR
• VEPTR to maximize the thoracic volume and
correct deformities of the thorax and spine in
patients with TIS.
• One VEPTR rod is placed between cradles set
on the rib and a hook set on the lumbar spine
or pelvis, and a secondary rod is placed
between cradles set on the ribs.
• These rods are extended every 4–6 months.
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Childrenshospital.org. 2017

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Resection and Fusion
• For treating congenital scoliosis caused by
hemivertebra posterior hemivertebra, resection and
monosegmental fusion appears to be effective.
• Once the hemi vertebra is removed the vertebrae
above and below it are fused together with
instrumentation.
• Most children will wear a brace or cast after the
operation until the spine heals.
• This operation has inherent risks involved; including
bleeding and neurologic injury, but good spinal
correction is often achieved.
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Resection and Fusion
A 5-year-old patient with a lumbar
hemivertebra and lumbosacral anomaly.
Excision of 2 hemivertebrae from a posterior
approach with distal pedicle screw fixation
done
Posterior segmental instrumentation of
an adolescent treated with posterior
fusion for a progressive curvature
because of mixed anomalies.
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Hedequist DJ (2009)

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Post operative complications
• Post-surgery pain
• Infection
• Implant pullout
• Neurologic injury
• Loss of normal spinal function
• Strain/stress fractures on un-fused vertebrae
• Curvature progression
• Development of new deformities
• Death
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Physiotherapy Mx
Examination
1. Manual Muscle Testing
2. Range-of-motion
3. Postural analysis.
4. Palpation for spinal abnormalities, tenderness and spasm of the
paraspinal musculature.
5. Asymmetry is be noted.
6. A complete neurologic evaluation includes an evaluation of pain,
numbness, paresthesia, tingling, extremity sensation and motor
function, muscle spasm, weakness and bowel/bladder changes.
7. X-ray, MRI, CT Scan examinations to rule out neural tube defects like
spina bifida oculta.
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Physiotherapy Mx
Examination
• Spinal bifida level is determined by careful examination of sensation and
motor function, and is generally classified as thoracic, high lumbar (L1 or
L2), midlumbar (L3), low lumbar (L4 or L5), or sacral.
• Asymmetry of sensory loss or weakness is common.
• L5 or sacral myelomeningocele have absent sensation around the anus,
perineum, and feet,
• L1 or L2 lesions may have some hip flexion and adduction but no
quadriceps strength to extend the knees.
• L3 lesions may have knee flexion but paralysis of ankles and feet.
• L4 and L5 lesions have quadriceps strength (for knee extension) and
may have some hamstring (for knee flexion) and anterior tibialis strength
(for ankle dorsiflexion).
• S1 lesions may have functioning glutei (involved in hip extension) and
gastrocnemii (involved in ankle plantar flexion).
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Physiotherapy Mx
Scoliosis
• Braces can be used for preserving the spine's shape and delaying early
surgery.
• The type of brace chosen depends on different factors such as:
1. Location of the curve
2. Flexibility of the curve
3. Number of curves and position and rotation of some of the
vertebrae.
• If the primary curve is deteriorating or measures some 25° or more,
the patient aged from two-and-a half years upwards is fitted with a
Milwaukee Brace.
• Once this is supplied, it is worn day and night, and is removed only once
daily for bath and exercises.
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Physiotherapy Mx
Scoliosis
• Klapps' protocol includes:
1. Walking on knees
• Walking on knees with lengthened trunk
• Kyphotic walking on the knees with swimming motion in the arms
• Kyphotic walking on the knees with circling movement in the arms
2. Crawling on all fours:
• Crawling on one side at a time
• crawling alternate sides at a time
• Pushing
3. Creeping
4. https://www.youtube.com/watch?v=LWUaHOIu__I
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Physiotherapy Mx
Scoliosis
• The patient stays in the Milwaukee Brace for several years, until surgery
is undertaken, or until all the following criteria are satisfied:
1. They are no longer in growth spurt
2. They can easily maintain the same posture out of the brace as in it
3. X-rays of the pelvis show that the iliac apophyses have closed
posteriorly. (Risser's Sign 5)
• Post surgery rehabilitation is essential.
• Children who undergo anterior and posterior hemivertebra excision must
wear a plaster for 3 months to maintain the spinal correction.
• After 3 months of immobilization, retraining of the postural muscles is
crucial to maintain the stability of the spine.
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Risser's Sign
• Risser's sign is a measures the growth left
in the spine - this may help to determine
the potential for progression of scoliosis.
• Risser 1: 25% iliac apophysis ossification
ASIS seen in prepuberty or early puberty
• Risser 2: 50% iliac apophysis ossification.
Seen immediately before or during growth
spurt
• Risser 3: 75% iliac apophysis ossification.
Indicates slowing of growth
• Risser 4: 100% ossification, with no
fusion to iliac crest . Indicates slowing of
growth
• Risser 5: Iliac apophysis fuses to iliac
crest. Indicates cessation of growth.
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Physiotherapy Mx
Neural Tube Defects
• Spina bifida occulta does not require any treatment.
• With spina bifida aperta, surgery is done immediately after
birth.
• Physiotherapy is needed post surgery for strength and
mobility of the child to walk normally when older.
• Assessment of motor function is important in predicting
mobility and the need for bracing and serves as useful
baseline information in determining whether neurologic
deterioration from tethering is occurring.
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Physiotherapy Mx
Neural Tube Defects
• Children with sacral lesions usually walk by the age of 2 to 3 years and
may require bracing at the ankles.
• Those with L3 paralysis usually require forearm crutches and bracing
above the knees.
• Children with high lumbar or thoracic lesions may eventually stand
upright and walk with extensive support of the hips, knees, and ankles.
• Most children with midlumbar spina bifida, who can ambulate with
crutches and braces, rely increasingly on wheelchairs for mobility as
they get older.
• Bladder and bowel dysfunctions are present in almost all children with
myelomeningocele along with varying degrees of sexual dysfunction.
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Physiotherapy Mx
Neural Tube Defects
• The physiotherapist will specifically be involve
d in:
• Joint Range of Motion
• Muscle strength
• Positioning and Handling
• Mobility and Ambulation
• Parent/carer education
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Physiotherapy Mx
Neural Tube Defects
• Joint Range of Motion
• In the early stages following surgery, begin passive
range of motion exercises on the infant’s legs .
• Normally be performed 2-3 times a day.
• Progress to mimic more functional movements.
• For example, whilst bending the left knee and hip,
the right side will be kept straight as would happen in
a normal walking pattern.
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Physiotherapy Mx
Neural Tube Defects
• Muscle strength
• This is normally introduced when the infant is old enough to
self mobilize.
• Develop a program to improve functional abilities in
children with spina bifida.
• These training program may involve a variety of exercises
for the upper and lower limbs, muscles of the trunk and
cardiovascular fitness.
• Hydrotherapy to maximize strength and mobility
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Physiotherapy Mx
Neural Tube Defects
• Positioning and Handling
• Following the first few days after surgery, the infant will normally
be placed inside or stomach lying.
• It may be advised that parents or carers hold the child
underneath the stomach and across their forearm due to the
surgical wound that will be present on the infant’s back.
• Parents or carers may take the infant for a walk around the
hospital resting over the shoulder. This can encourage the child
to begin to lift his or her head and begin to develop head and
neck control
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Physiotherapy Mx
Neural Tube Defects
• Mobility and Ambulation
• Mobility problems in spina bifida can vary according to the level
of the spine that has been affected.
• A child with a lesion in the lower back (Lumbar or Sacral levels),
is more likely to be able to independently mobilise than one with
a lesion in the upper thoracic spine.
• This can determine whether the child will require a wheelchair,
orthotics or assistive devices
• Infants with spina bifida benefit from movements that challenge
control of the head, neck and torso, rather than the use of
passive sitting devices or chairs.
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Physiotherapy Mx
Neural Tube Defects
• Parent/carer education
• Infants with spina bifida benefit from movements that challenge
control of the head, neck and torso, rather than the use of
passive sitting devices or chairs.
• Promote active movement and sensory information from the
surrounding environment in order to learn how to move efficiently
against gravity and maintain erect sitting and standing postures.
• The parents will be encouraged to observe the physiotherapist
carrying out exercises, handling and positioning strategies before
being asked to duplicate these treatments independently.
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References
1. Cortazar AZ, Martinez CM, Feliubadalo CD, M. R. Bella Cueto MR, L. Serra L. Magnetic resonance imaging in the prenatal diagnosis of neural
tube defects. Insights Imaging 4, 225–237 (2013). https://doi.org/10.1007/s13244-013-0223-2
2. Anencephaly - Fetal Health Foundation [Internet]. Fetal Health Foundation. 2019 [cited 2021 Apr 6]. Available from:
https://tinyurl.com/2hxyf7sd
3. Sandler A.D. Children with Spina Bifida: Key Clinical Issues. Pediatric Clinics of North America, 2010; 57(4): 879–
892. doi:10.1016/j.pcl.2010.07.009
4. Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell, R. H. Overview on neural tube defects: From development to physical
characteristics. Birth Defects Research. 2019;111:1455–1467. doi:10.1002/bdr2.1380
5. Salih MA, Murshid WR, Seidahmed MZ. Classification, clinical features, and genetics of neural tube defects. Saudi Med J. 2014;35 Suppl
1(Suppl 1):S5-S14.
6. Mahirogullari M, Ozkan H, Yildirim N, Cilli F, Gudemez E. Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23
cases. Acta Orthop Traumatol Turc. 2006;40(3):234-9.
7. Congenital Kyphosis | Scoliosis Research Society [Internet]. Srs.org. 2021 [cited 2021 Mar 26]. Available from: https://tinyurl.com/7ur9rdm3
8. Matsumoto M, Watanabe K, Hosogane N, Toyama Y. Updates on surgical treatments for pediatric scoliosis. J Orthop Sci. 2014;19(1):6-14.
doi:10.1007/s00776-013-0474-2
9. Lonner SB. Pediatric Scoliosis Surgical Technologies: Growing Rods [Internet]. SpineUniverse. 2017 [cited 2021 Mar 26]. Available from:
https://tinyurl.com/29822n7d
10. Infantile Scoliosis | Boston Children’s Hospital [Internet]. Childrenshospital.org. 2017 [cited 2021 Mar 26]. Available from:
https://tinyurl.com/s2d5728
11. Congenital Scoliosis | Scoliosis Research Society [Internet]. Srs.org. 2021 [cited 2021 Apr 6]. Available from: https://tinyurl.com/3fsz22cu
12. Hedequist DJ. Instrumentation and Fusion for Congenital Spine Deformities. Spine, 2009; 34(17): 1783–
1790. doi:10.1097/brs.0b013e3181ab62b3
13. Creswell JE. The conservative management of scoliosis in children and adolescents, and the use of the milwaukee brace. Aust J Physiother.
1969;15(4):149-152. doi:10.1016/S0004-9514(14)61084-9
14. Klapp exercises [Internet]. Physiopedia. 2017 [cited 2021 Apr 7]. Available from: https://www.physio-pedia.com/Klapp_exercises
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