Vertebral Anomalies

Vertebral problems in TOF/OA and VACTERL
Text created in association with Robert Dickson, Professor and Head of the Department of
Orthopaedic Surgery, the University of Leeds.
What is a vertebra?
Vertebral anomalies
A vertebra is is one of many bones making
up the spinal column or backbone. Our
vertebrae are divided up into five types
according to their location:
Children are sometimes born with
vertebrae which are only partly formed,
(‘hemivertebrae’ or ‘wedge vertebrae’ –
see illustration below) or vertebrae which
are fused together (‘block vertebrae’).
The so-called ‘butterfly vertebra’ is
actually two hemivertebrae which have
occurred at the same level.
Cervical vertebrae are
found below the base of
the skull, in the neck
Thoracic vertebrae are in
the chest and each carry
an articulation with a rib
Lumbar vertebrae are
designed to allow the
flexibility that we have in
the small of the back
Coccygeal vertebrae
make up our ‘coccyx.’
The spine is, however, more than merely a
flexible support for our torso; it houses
the spinal cord through which the nerves
carrying signals to and from our body run.
The cord runs through the spinal canal,
within the vertebrae, and nerves emerge
from it to our muscles, and return to it
carrying sensory information from our
skin and other body organs.
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Sacral vertebrae are
fused together to form
the sacrum, which forms
a joint with our pelvis
Between the vertebrae
are found structures
which are commonly
referred to as the ‘discs’
– more correctly
‘invertebral discs.’ These
form the joints between
the ‘vertebral bodies.’
This information has been
written for the parents of
TOF children by TOFS
(Tracheo-Oesophageal
Fistula Support) – helping
children born unable to
swallow.
Missing or extra vertebrae – often
associated with an extra pair of ribs if
located in the thoracic region of the spine
– do not generally cause deformity or
other problems.
Another group of problems which wdo
not cause a gross deformity but can be
equally problematic are those which
involve the shape of individual vertebrae
in different ways –␣ such as extra
projections from the bone’s surface –␣ and
any abnormalities in the structures
surrounding the spinal cord.
Do anomalies matter?
The significance of vertebral anomalies is
related to two things: their ability to cause
spinal deformities, and their ability to
create neurological problems.
Spinal deformities
A visible deformity of the spine may be
present at birth, as a direct result of the
deformity causing a bend in the spine, or
it may become obvious as the child grows,
the unbalanced forces which the anomaly
exerts on the surrounding vertebrae
causing them to grow abnormally.
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providing a source of
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There are three categories of spinal deformity:
Assessing vertebral anomalies
and spinal deformity
• Scoliosis: a side-to-side curving of the spine when
viewed from behind
• Kyphosis: a forwards bending of the spine when
viewed from the side
ª Lordosis: a backwards bending of the spine when
viewed from the side.
In assessing a child with congenital vertebral
anomalies who has a spinal deformity, several
questions are asked: how bad is the deformity now?
(and – if severe – is it causing neurological or
cardiorespiratory signs?) and is it likely to get worse?
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Whilst the current status of a deformity can be
evaluated using a combination of physical
examination and radiography (X-rays), it is not
always possible to predict which anomalies are going
to progress. Absent or additional vertebrae will not
push the spine out of alignment and are therefore
unlikely to cause deformity. However, multiple
anomalies may either cancel one another out, or have
an additive effect, and while most solitary
hemivertebrae will not cause deformities which are
progressive, this depends on their location in the
spine – so each individual case needs to be assessed
by an experienced orthopaedic surgeon.
These deformities may co-exist, and may be mild or
severe in their appearance and effect on the
individual’s life. If severe they may affect the
function of organs in the chest (the heart and lungs)
– however this is unlikely to develop after a child has
reached the age of 5 years. An individual’s ability to
sit or stand can also be affected simply due to the
amount of deformity present.
Neurological problems
Muscular weakness or loss of sensation may result
from spinal deformities if they put pressure on the
spinal cord, but can also be caused by abnormalities
in the shape of individual vertebrae (either coexistant with spinal deformity or in its absence) or
from various problems affecting the relationship of
the spinal cord to the vertebrae (discussed under
‘spinal dysraphism’).
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Fortunately scoliosis is not painful at any stage
throughout life. Sometimes kyphosis in adolescence
can be painful but that usually settles at the end of
spinal growth.
Reassessment at regular intervals may be required for
many children – and may need to be continued for
many years, since the adolescent growth spurt is
often a time when progression occurs rapidly.
t h e
c o b b
a n g l e
This is a measurement of the amount of deformity
present, and is measured from radiographs (X-rays).
A surgeon may take many views at a range of angles
in order to see the deformity from different
directions. An increasing Cobb angle is indicative of
a worsening deformity.
Idiopathic scoliosis
Scoliosis can develop in the absence of congenital
vertebral anomalies; this is called ‘idiopathic
scoliosis.’ TOF/VACTERL children may suffer this
form of deformity – which can become apparent at
varying ages and may either resolve spontaneously or
progress and require treatment.
Treatment of spinal deformities Spinal dysraphism
Where a visible deformity is the only problem, and
progression is not an issue, a decision may need to be
made regarding how acceptable the deformity is to
the individual (and/or the family). If it is acceptable,
then no surgery will be required.
If a deformity is progressing rapidly or the underlying
anomaly is of a type likely to worsen dramatically,
then surgical intervention will be advised to halt this
progression. The issue of acceptibility (as above) may
also be relevant in order to decide whether only a
halting of progression will be sufficient, or whether
the spine additionally needs to be straightened from
its current position.
This is a term which refers to a number of different
conditions with a common feature; they are all
possible causes of ‘spinal cord tethering.’
After birth, the spinal cord extends further down the
spinal column than it does in adulthood. This means
that during a child’s growth, the end of the cord
‘migrates’ up the spinal column until it reaches its
final position, between the 1st and 2nd lumbar
vertebrae.
Anything which prevents this movement will put the
cord under tension, and this has become known as
‘tethering.’
A deformity which is already causing problems for
the chest organs or the spinal cord will inevitably
require surgical treatment to straighten the spine.
The exact surgical procedure will vary depending on
the nature of the problem(s). Surgery may be
required on the back or the front of the spine (or
both), depending on where the anomaly lies and
where it is having its effect on growth/deformity.
The operation may involve removal of bone, grafting
of bone from other locations in the body (often a rib
or the rim of the pelvis) in order to cause vertebra to
be fused together, or use of metal implants and
screws. For some children, staged procedures will be
necessary (i.e. one operation followed by another at
an interval of a week or two afterwards) and some
individuals may need to be prepared to undergo
operations at different ages.
Whereas body casts and splints are sometimes
sufficient for the management of idiopathic scoliosis,
there is no evidence that they are effective for children
with congenital vertebral deformities, although they
may in certain instances be useful for a short period
before surgery. Traction devices may also be used for
the same purpose in some patients. Bracing may be
used for a while post-operatively, to support the
surgical repair.
Immediately after surgery, the child will require
meticulous nursing care. With time, increasing
movement will be encouraged and it is often
surprising how quickly recovery progresses.
Restriction of activities is often necessary for some
months, with regular follow-up checks essential to
ensure continued improvement.
A small proportion of children with congenital
vertebral anomalies may have a degree of tethering,
so it is important to assess for this during growth –
and especially important to make adequate checks
prior to surgery to correct deformities, since
straightening of a deformed spine may increase any
tethering, with potentially serious consequences.
Causes of tethering
Various problems can cause tethering, but the most
common are:
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The tapered end of the spinal cord is known as the
‘conus.’ This continues as the ‘filum terminalie’
which is attached to the coccygeal vertebrae.
A shortening of the filum - usually associated with a
thickening which can be seen on a special X-ray (a
myelogram – where a contrast material is injected
around the spinal cord so that it can be seen on a
radiograph) will restrict the migration of the cord
with growth.
This problem is also known as ‘fatty filum.’
Related leaflets from
TOFS which you might
like to read:
1. Conditions occurring
with TOF/OA
2. VACTERL an overview
3. VACTERL anal anomalies
4. VACTERL cardiac anomalies
5. VACTERL renal anomalies
6. VACTERL limb anomalies
d i a s t e m a t o m y e l i a
These are all available
from the TOFS web site
(www.tofs.org.uk)
or from TOFS office.
X-rays will show abnormalities of the
spinal column, however a proper
S p i n o c fu i t s a t n u e l o diagnosis
a u s cannot be made until a surgical
exploration has been undertaken.
This much rarer problem is a connection
between the skin and the structures
around the spinal cord. It is a serious
Treatment of tethering
condition due to the risks of infection.
Where the only problem is a tethered
conus, this can be relatively easily released
Signs of tethering
at surgery simply by cutting through the
Indications that a child has cord tethering restricting filum.
may arise in various ways.
Other problems will require more
involved sugery to remove the offending
s k i n
structure(s).
An abnormally hairy patch of skin, a
dimple (e.g. sacral dimple), a port wine
Usually the surgeon will also inspect the
stain or an area of scarring which is
filum when operating on problems
present at birth may all alert a doctor to
further up the spine to ensure that there
possible causes of tethering. These
are not additional problems further down
problems act like a ‘warning sign’,
the cord. This can be performed using an
indicating that further investigations are
endoscope (flexible telescope) which is
required and that additional signs may
inserted down alongside the spinal cord.
develop as the child grows unless
As with spinal deformities, follow-up is
corrective surgery is undertaken.
important to ensure that no further
problems are encountered.
TOFS also publishes a
book, ‘The TOF Child,’
which is suitable for both
parents and medical
professionals. Details are
available from TOFS.
Additional resources:
The Scoliosis Association
offers comprehensive
information and a source
of support for families of
children with scoliosis.
Scoliosis Association (UK)
2 Ivebury Court
323-327 Latimer Road
London W10 6RA
Tel: 020 8964 1166
Fax: 020 8964 5343
Website:
www.scoliosis.org.uk
This is a congenital anomaly which
projects into the spinal cord and may even
cause it to be split into two. Since 10% of
children with congenital spinal anomalies
may have diastematomyelia, this must be
excluded by careful examination of
radiographs.
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pp
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nm a a l
This is a fatty area within the spinal canal.
D
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m c oy i s d t
This is a cystic structure which is
comprised of tissues originating from the
skin; it may extend down to the spine.
Other problems usually do not present
until the 2nd or 3rd year of life:
p
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VACTERL children may also have renal
or anorectal problems which contribute to
a lack of urinary control, however spinal
cord tethering can also affect this
function.
l o w e r
l i m b
a b n o r m a l i t i e s
These either have the appearance of a
‘club foot’ or take the form of a limp due
to an discrepancy in the size of the limbs.
I f
a
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o jt o
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Information available
from either TOFS office
or the TOFS web site.
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T O F S
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