The spinal column is the central structure in the vertebrate body from which stability, movement,

and posture all derive. The vertebrae of the spine are organized into four regions (listed in order from
cranial to caudal): cervical, thoracic, lumbar, and pelvic. These regions are classified by their
differences in curvature. The human spine usually consists of thirty-three vertebrae, seven of which
are cervical (C1–C7), twelve are thoracic (T1–T12), five are lumbar (L1–L5), and nine are pelvic (five
fused as the sacrum and four fused as the coccyx).
Formation of the spine during embryogenesis is an intricate and highly regulated process. The spine
is established when somites, the building blocks of the spine, are formed sequentially from anterior
to posterior and then separate into cranial and caudal portions. There is then a sudden shift in which
the cranial portion of each somite simultaneously recombines with the caudal portion of the directly
anterior somite in a process known as resegmentation. This allows the spinal nerves to pass between
the precartilaginous vertebral bodies which later form the vertebral arches and protect the spinal
nerves. If disrupted, the process of spinal formation can result in vertebral anomalies such as
hemivertebrae, block vertebrae, butterfly vertebrae, transitional vertebrae, and in extreme
cases, spina bifida. These defects can cause compression of the spinal cord due to deformation of the
vertebral canal, spinal curvature, and alterations of the shape and number of vertebrae. This suite of
malformations of the spine that occur during gestation is referred to as congenital vertebral defects.
Hemivertebrae, or wedge-shaped vertebrae, are caused by failure of formation
or segmentation of somites during osteogenesis. One probable cause of this failure is a lack of blood
supply to the vertebrae. Hemivertebrae cause an angling of the spine and are most commonly
manifested in defects such as kyphosis (posterior curvature), scoliosis (lateral curvature),
and lordosis (anterior curvature). The most common location for hemivertebrae is the midthoracic
region (especially T8), and they are the most likely vertebral defect to cause neurological problems.
There are four distinct types: incarcerated, nonincarcerated, segmented, and unsegemented.
Incarcerated hemivertebrae are those in which the vertebral bodies above and below the abnormal
segment accommodate the hemivertebrae, whereas nonincarcerated refers to the failure of
accommodation, usually resulting in spinal curvature. Segmented, or free, hemivertebrae have a
normal disk above and below the defective body and are more likely to lead to progressive curvature,
while unsegmented hemivertebrae are fused with the vertebral body above and below. Neurological
problems may result if the hemivertebrae cause severe angulations of the spine, narrowing of the
spinal canal, instability of the spine, or fractured vertebrae. Signs of neurological problems associated
with hemivertebrae include rear-limb weakness, paralysis, urinary/fecal incontinence, and spinal
pain. Fortunately, most cases of hemivertebrae cause few or mild symptoms and usually do not
require treatment.
Similar to hemivertebrae, block vertebrae also occur when there is improper segmentation of
the somites during the period of differentiation, leading to fusion of parts of or entire vertebrae.
The sacrum, or pelvic girdle, is an example of block vertebrae that occurs normally in the body. When
vertebrae fuse in the upper regions of the spine, however, a unilateral bar (a region in which several
vertebrae are fused on one side) may form, causing curvature of the spine. Because there is little or
no motion in the affected area, the free articulations above and below the segment are usually
strained. Although block vertebrae are most commonly found in the cervical region, they can also be
found throughout the spine. Individuals with block vertebrae, when viewed through MRI, typically
show calcified disk space, fusion of apophyseal joints, and malformation or fusion of the spinous
processes. They may also suffer from muscle weakness and/or atrophy, and neurological sensory
loss. This defect is caused by genetic and environmental influences that occur
during somitogenesis around the third week after fertilization. Physicians are able to detect
congenital block vertebrae in vivo, but it is difficult to determine whether the defect is congenital,
acquired, or both.
A sagittal cleft or “butterfly” vertebra is characterized by a cleft through the body of the vertebra and
a funnel shape at the ends, a shape that resembles a butterfly. In some affected individuals, the
“wings” of the butterfly vertebrae are not equally shaped and can cause disorders such
as scoliosis and kyphosis. The adjacent intervertebral spaces may be narrowed causing
compensatory changes in adjacent vertebrae, leading to other vertebral and rib anomalies. In most
cases severe pain is not associated with this condition and little or no treatment is required.
Mitigation of the condition may include avoiding heavy lifting or using an external back support.
Butterfly vertebrae are thought to result from the failure of fusion of the lateral halves of the vertebral
body due to the continuing presence of notochord tissue between them.
Transitional vertebrae involve changes in the vertebral arch or transverse process and occur at the
cervicothoracic, thoracolumbar, or lumbosacral junction. In this condition, the vertebral body
between adjacent sections of the vertebral column, for example, between the lumbar and sacral
regions, shows characteristics of each type (lumbar and sacral) of vertebra. Anthropomorphically
speaking, it is as if the vertebrae do not know which portion of the spine they belong to, so they
exhibit characteristics of multiple types of vertebrae. Treatment for this defect usually involves
physical therapy to strengthen the spine and the use of a back brace.
Spina bifida, the most extreme case of congenital vertebral defect, is characterized by incomplete
closure or formation of the spine. There are two forms: spina bifida occulta and spina
bifida manifesta. Spina bifida occulta (occulta meaning “hidden”) is the mildest form. Most children
with this defect appear symptomless and their spinal cord in unaffected, although there may be a
hairy patch on the lower region of the back signifying a cell signaling error. Spina bifida manifesta,
the more severe form, is dived into two types: meningocele and myelomeningocele. Meningocele is
an intermediate form of spina bifida involving the brain and spinal cord membranes (meninges). The
meninges push through an opening in the spinal column and form a sac that may be visible at birth.
Myelomeningocele is the most severe type of spina bifida; it is similar to meningocele, but the
meninges along with the spinal cord manage to push through an opening in the back. Some
researchers suspect a genetic cause for spina bifida while others suggest it is a result of
environmental factors. Fevers during pregnancy and consumption of some prescription drugs, such
as valproic acid, have been associated with spina bifida. Many children born with this defect also
have hydrocephalus (water on the brain) and even paralysis. Research has found that ingestion
of folic acidsupplements during pregnancy is correlated with a large reduction in the occurrence
of spina bifida.
Many syndromes are associated with congenital spinal deformities. These include Down
syndrome, deletion 5p syndrome, Kabuki syndrome, Noonan syndrome, Aarskog
syndrome, cervico-oculo-acoustic syndrome, MURCS association, VACTERL association, Jarcho-
Levin syndrome, and Proteus syndrome. Vertebral anomalies are also associated with kidney
problems because the precursor cell population that creates the spine is the same population that
migrates to form the mesonephros. The spine and its precursor cells, somites, are an essential part
of the vertebrate body plan and any disruption to the process of formation can lead to anomalies
which can inhibit movement and growth, and cause severe pain.
https://embryo.asu.edu/pages/congenital-vertebral-defects
Definition/Description
Congenital deformities of the spine are deformities identified at birth that are the result of
anomalous vertebral development in the embryo. Minor bony malformations of all types occur
in up to 12% of the general population and are usually not apparent. [1] The spine is a complex
and vital structure. Anatomically, a variety of tissue types are represented in the spine,
including musculoskeletal and neural elements. Several embryologic steps must occur to
result in the proper formation of both the musculoskeletal and neural elements of the spine.
Alterations in these embryologic steps can result in congenital abnormalities of the spine. [2]
Based on the type of malformation, the resulting deformity and the specific region of the spine
where the malformation occurs, these congenital malformations of the spine can be classified
into three main groups:[2]
1 When the neural tube fails to completely close during the embryonic development, this is a
neural tube defect. The most common example is spina bifida. This term refers to a
defective fusion of the posterior spinal bony elements, but is still incorrectly used to
refer to spinal dysraphism in general, [3] Spina bifida aperta is an open spinal
dysraphism for example, associated with meningocele or meningomyelocele and
Spina Bifida Occulta is anexample of closed spinal dysraphisms. [4]
2 When two or more vertebrae fail to fully separate and divide with concomitant partial or
complete loss of a growth plate, this is called a failure of segmentation. Examples of
this type of congenital spine deformity are congenital scoliosis, congenital kyphosis,
congenital lordosis and Klippel-Feil syndrome. [5]
3 Congenital scoliosis and congenital kyphosis, and congenital lordosis can also be examples
of a failure of formation. This type of congenital spine deformity occurs as a result of
an absence of a structural element of a vertebra. Typical observable defects are
hemivertebrae or wedge vertebrae. [5] [6]

Congenital abnormalities of the spine have a range of clinical presentations. Some congenital
abnormalities may be benign, causing no spinal deformity and may remain undetected
throughout a lifetime. Others may be associated with severe, progressive spinal deformity
leading to cor pulmonale or even paraplegia. Some deformities will result in sagittal plane
abnormalities, for example kyphosis or lordosis, whereas others will primarily affect the
coronal plane, like scoliosis. The resultant spinal deformity is often a complex, three-
dimensional structure with differences in both the coronal and sagittal plane, along with a
rotational component along the axis of the spine.[7]
Clinically Relevant Anatomy
Neural tube deformities
Neural tube deformity is a term for congenital anomalies because of incomplete closure of the
neural tube in the utero. [8] [9] This causes impaired formation of structures along the
craniospinal axis. [10] Spinal neural tube defects can be subdivided into those that are open
versus those that are closed:
• Open: the failure is primary neuralation
• Closed: the structural deformities are mostly limited to the spinal cord. [11] [12]
It is not only the elements of the spine that can be affected. Other bodily organs which formed
during the same embryonic stage can also be affected. This is because the paraxial mesoderm
is responsible for the formation of the vertebrae, whereas the other two areas of mesoderm
(intermediate and lateral) are involved in the development of the urogenital, pulmonary and
cardiac systems. Many patients may have difficulty with respiration due to the abnormal
curvatures of the spine [5]. It has also been observed that these associated anomalies have
an influence on the progression of untreated congenital Scoliosis.[13]
Failure of segmentation/ formation
The bony structure of the spine is determined in the first 6 weeks of intrauterine life, at the
mesenchymal stage of embryonic development. Somites form and undergo a process of
segmentation and recombination. This is necessary to give rise to the cartilaginous mould that
afterwards will ossify to form the bony spine. Errors during this process can lead to either
 failure of formation, failure of segmentation or a combination of both. [14]

Examples of a failure of segmentation are:

• Congenital kyphosis
• Congenital Scoliosis
Examples of a failure of formation are:
• Klippel-Feil syndrome [15]
• Congenital kyphosis
Congenital Scoliosis

The anomaly is present at birth, so a curvature is noted much earlier than patients with
idiopathic scoliosis. Large deformities can result due to the number of years of growth
remaining. [16]
Epidemiology /Etiology
The etiology of congenital spine deformities varies greatly because there are many
different types. It is difficult to identify one factor that may be responsible with prevalence
being different for each of them. [5] They can be divided into 3 groups:
1. Neural tube deformities such as spina bifida which is not a very common disease. It
is believed that spina bifida is caused during pregnancy due to a deficiency of vitamin B
and is also dependant on genetic and environmental factors. Obese women with poorly
controlled diabetes have a greater risk of having children with spina bifida. In America
less than 1 in 1000 children are born with it each year. Having a child with spina bifida
increases the chance that further children will also develop the condition by 8 times [17] [18]
2. Congenital spine deformities due to failure of segmentation. In this case, the
vertebrae are fused together and cause congenital kyphosis, congenital lordosis,
and Scoliosis. [19] Congenital Scoliosis is not the most common type as it only accounts for
15% of the total cases [20] with thoracic scoliosis being the most common at 64% of the
total cases, Thoracicolumabar scoliosis accounts for 20% with 11% located in the lumbar
region and 5% in the lumbosacral region. [5] Klippel-Feil syndrome is also due to a failure
of segmentation. There is not much known about the prevalence of this syndrome.
3. Congenital spine deformities due to failure of formation are rare. The prevalence of
hemivertebrae is 0.33 out of 1000 births and there is an equal number of women and men
affected. Goldstein showed that 23 out of the 26 children with hemivertebrae developed
a congenital spine deformity like scoliosis, congenital lordosis or congenital kyfosis. [21]
Environmental factors, genetic factors, vitamin deficiency, chemicals, and drugs, singly
or in combination, have all been implicated in the development of congenital
abnormalities during the embryonic period. Whatever the factor is that influences the
embyo it must affect the embryo at a very early stage of development, before cartilage
bone can develop. These defects can lead to a failure of segmentation or a failure of
formation of the spine. [22]
Studies carried out confirmed various possible causes that may help in the prevention of
these anomalies. showing that during critical stages of development, fetal exposure to
thalidomide can lead to severe congenital malformations. Ghidini et al. suggested that
mothers taking lovastatin have an increased risk for congenital abnormalities. Certain
progestin/estrogen compounds may also increase the incidence of these anomalies. [5]
Characteristics/Clinical Presentation
A defect early in fetal life may have a variety of clinical presentations as several systems
develop from a common precursor. [5]Examples of these clinical presentations are
scoliosis, hyperlordosis and/or hyperkyphosis. Congenital abnormalities of the spine also
have the potential to affect the spinal cord and associated nerve roots. The neurological
symptoms can vary from minor motor or sensory signs to paraplegia, depending on the
type and severity of the congenital spine deformity, but congenital spine deformities are
not always immediately obvious at birth. [23] They can present as a deformity with growth
or with clinical signs of neurologic dysfunction during adolescence or adulthood.
Neural tube deformities
 As described earlier, neural tube deformities can be divided into two groups:
 Open: neural elements and/or membranes are exposed to the external environment.
Myelomeningocele is characterised by being most frequently present in the lumbosacral
region, [24] a bulging of a sac like structure covered by a thin membrane with CSF that
will drain if the sac is disrupted [25]
Myelocele Is associated with similar clinical implications as myelomeningocele but is
flat [25]
Hemimyelomeningocele is a rare lesion where the spinal cord has been divided by a bony
spur with one segment open and the other closed [12]
 Closed: spinal abnormalities covered by skin. Some go undetected or remain
asymptomatic, [12] [26] but there are variants that can be associated with cord tethering,
subcutaneous mass or more severe spine abnormalities. The lumbosacral region is the
most common location of these defects [10] An affected child has an intellectual function
and other functions are as well less affected [11]Lipomyelomeningocele and lipomyelocele
are characterised by subcutaneous fatty mass above the gluteal crease [25]
Failure of segmentation
Congenital scoliosis is charaterised by:
 a three-dimensional deformity involving lateral curvature and rotation
 a benign prognosis
 the fact that worst curves occur with unilateral defects
 a curve site dependent on the location of apical vertebra [27]
Congenital kyphosis
 Can progress rapidly and may cause spinal cord compression and paralysis [28]
Failure of formation
Congenital scoliosis
 Poor prognosis [24]
Congenital kyphosis
 Absence and asymmetry of the growth plates [29]
 Klippel-feil syndrome
Differential Diagnosis
Most congenital spine deformities are diagnosed in the uterus, and if not, at birth. as
they are clearly present e.g. Spina Bifida, scoliosis. Some disorders, however, might not
become symptomatic until childhood or even adulthood [4] In these cases, MRI scans or
ultrasound can be used to diagnose the specific disorder, [30] therefore, for many
conditions there is not a differential diagnosis as the deformity/anomaly will be clear on
an MRI.
Neural tube deformities
Spina bifida is an out dated term for spinal dysraphism. [31] This modern term includes
many congenital anomalies where the neural tube is defective, which leads to hernia’s of
the meninges or other neural tissues.
 open: with a non-skin covered back mass, where you have to differentiate between
myeolecele and myelomeningocele
 closed: with a skin-covered back mass, where you have to determine whether there is a
subcutanuous mass present or not [32]
Failure of segmentation
Congenital scoliosis:
In most of the severe cases, scoliosis can be detected without medical imaging. There are
different forms that can be present as a result of failure of segmentation:
 A block vertebra, which is a bilateral failure with complete fusion of the disc between the
involved vertebrae.
 A unilateral unsegmented bar has fused discs and facet joints on one side of the vertebral
column. [3]
Congenital kyphosis:
 idiopathic hyperkyphosis
 neuromuscular
 spinal cord tumor
 connective tissue disorders
 skeletal dysplasia
 infection (tuberculosis, pyogenic, fungal)
 tumor
 myelomeningocele [3]
Congenital spinal canal stenosis
The sagittal diameter must be <13 mm to be considered a congenital spinal canal stenosis.
This disorder itself is not the cause of particular symptoms. It is the Spinal Canal
Compression Syndrome that triggers the neural structures in the spinal canal and because
of the congenitally narrowed spinal canal, these patients face a greater risk of developing
the syndrome. Depending on the disease, there are differential diagnoses for the Spinal
Canal Compression Syndrome at each level of the spine.
 Cervical: MS, Myelitis, B12 hypovitaminosis, spinal tumors, polyneuropathy (PNP),
ateriovenous malformations
 Thoracal: disc herniation (often calcified), OPLL, arteriovenous malformations, spinal
tumors
 Lumbar: vascular claudication, spinal metastasis, polyneuropathy. [3]
Failure of formation
Congenital scoliosis
As mentioned above there are different types of scoliosis. The following are as a failure
of formation:
 A Hemivertebra, which is a complete unilateral failure of the vertebral formation that
can be:
○ Fully segmented
○ Partially segmented
○ Non-segmented
A hemivertebra can be further described as incarnated or non-incarnated.
 A wedge vertebra is a partial unilateral failure. [33]
Congenital kyphosis
 idem failure of segmentation
Klippel-Feil syndrome
 Congenital muscular torticollis [34]
 Wildervanck syndrome
 MURCS association
 Turner or Noonan syndrome
 Morquio syndrome
 Tuberculosis of the cervical spine
 Nevoid basal cell nevus syndrome
 Crouzon syndrome
 Apert syndrome
 Binder syndrome
 Oculo-auriculo-vertebral spectrum [35]
Osteopetrosis
 Leukemia [36]
 Dysosteosclerosis [37]
Diagnostic Procedures
There are several different procedures that can be used to carry out the imaging of the
spine. The choice of imaging depends on what is required to be analysed, such as bone vs
spinal canal. In children, it is important to start with less invasive procedures such as US,
due to their cartilage and non-ossified bones. [30]
X-Rays are useful for showing structural deformities such as hemivertebrae, butterfly
vertebra, or incomplete fusion of posterior elements. X-ray is used if no imaging of the
spinal cord is required. For scoliosis, erect posterior-anterior frontal and/or lateral views
(with breast shielding) are usually obtained. [38]
 MRI is most frequently used for imaging of the spine in adults as the spinal canal and its
content can be analysed.
Basu et al. suggest that MRI and echocardiography should be an essential part in any
evaluation of patients with congenital spinal deformity, [39] with numerous other studies
demonstrating the high degree of confidence with MRI use. [40] [41] [30] [42] [43]
CT Scans continue to be the preferred method for the assessment of localised bony
abnormalities, or a calcified component, of the spinal canal, foramina, neural arches, and
articular structures. [38]
Outcome Measures
These are the most commonly used questionnaires with patients who have undergone
spinal surgery, the most common treatment for congenital spine deformities.
 The Balanced Inventory for Spinal Disorders [44]
 Owestry Disability Index [45] [46] [3]
 The physical component summary [45]
 The Short Form of the Medical Outcomes Study [45] [3]
 Brief Pain Inventory [46]
 Roland–Morris disability questionnaire [46] [3]
 SRS-22 Questionnaire [47]
Examination
The physical examination of a patient with kyphosis has various components: [48]
 postural analysis, which may reveal a gibbus deformity or a round back.
 palpation to assess for spinal abnormalities and may identify tenderness of the paraspinal
musculature, which is often present.
 range of motion during flexion, extension, side bending and spinal rotation of the back.
Asymmetry is be noted. Adam’s forward bend test may reveal a thoracolumbar kyphosis,
although Karachalios et al suggested that this test is not a sure diagnostic criterion for
the early detection of scoliosis due to the unacceptable number of false-negative
findings. [49] Rather, the combined back-shape analysis methods is recommended.
Côté Pierre et al. however, suggested that the Adam’s forward band test is more sensitive
compared to the scoliometer and consider it to be the best non-invasive clinical test to
evaluate scoleosis. [50]
A complete neurologic evaluation should also be carried out to rule out in the presence of
intraspinal anomalies [48]. Patients with congenital spondylolisthesis show deficits in their
neurological examinations. [5] A neurological evaluation includes an evaluation of pain,
numbness, paresthesia, tingling, extremity sensation and motor function, muscle spasm,
weakness and bowel/bladder changes. [3]
For the examination of spina bifida oculta, X-ray examination is the only valid test to
confirm this type of neural tube defect. [2]
Medical Management
The natural history, the character and location of the deformity ultimately influence the
choice of treatment. [1] Spinal instrumentation for congenital spine deformity cases is safe
and effective, [51] [52] as is growing rod surgery for selected patients with congenital spinal
deformities. [53] [54] The size and weight of the patient determines the size of the spinal
implants, whereas the surgical fixation anchors are determined by the anatomy of the
patient and the anomalies present. [52] The complications associated with the use of this
spinal instrumentation are infrequent and the curve correction, length of immobilisation
and fusion rate is improved. [52]
Growing rod surgery
Growing rod surgery is one of the options for the correction of scoliosis, a modern
alternative treatment for young children with early onset scoliosis. Elsebai HB et al.
focused on its use in progressive congenital spinal deformities. The incidence of
complication remained relatively low [53] [54] and is also recommended for patients where
the primary problem is at the vertebral column.
Expansion thoracostomy and VEPT
For severe congenital spine deformations, when a large amount of growth remains,
 expansion thoracostomy and VEPTR (a curved metal rod designed for many uses), are the
most appropriate choice. These methods are used when the primary problems involve the
thoracic cage, for example when there are rib fusions and/or with developing Thoracic
Insufficient Syndrome, [54] but the incidence of complications using VEPTR is, however,
relatively high. [55]
Resection and fusion
For treating congenital scoliosis caused by hemivertebra posterior hemivertebra,
resection and monosegmental fusion appears to be effective. This treatment results in an
excellent correction in both the frontal and sagittal planes. [56] Early surgery is typically
prescribed as a treatment for children with congenital scoliosis, even though there is little
evidence for its long term results. Evidence base is also lacking to confirm the hypothes is
that spinal fusion surgery for children with congenital scoliosis is effective Additionally,
there are conflicting data about the safety of hemivertebra resection and segmental fusion
which uses pedicle screw fixation. [55]
Physical Therapy Management
Physical therapy helps patients to continue with daily activities. There are various
interventions for congenital spine deformities, such as bracing and postural training and
surgical, as described under medical management.
Scoliosis:
Various approaches for conservative management can be considered, although opinions
are divided for the its early treatment. Braces cannot correct a spinal curve, but they ca n
be used for preserving the spine's shape and delaying early surgery. [57] LoE 5 [24] LoE 2a.
It is important, therefore, that conservative management is considered before surgery.
External support with casts or braces is considered to be successful in only a small
percentage of cases and that surgery is the definitive treatment [58] LoE 2b, although this
is refuted by Fender et al. who claim that surgical intervention during infancy is the aim
of the treatment before compensatory curves can develop. [59] LoE 5
Few cases have been reported on the influence of conservative treatment. Kaspiris et
al claim that segmentation failure should be treated with early surgery before growth in
puberty. For scoliosis due to failure of formation, further investigation is needed to
determine whether a conservative approach would be necessary. [60] LoE 2b. More
research is needed to prove the effectiveness of conservative treatment in congenital
scoliosis.
Numerous brace designs have been developed for the spine. The type of brace chosen
depends on different factors such as: location of the curve, flexibility of the curve, number
of curves and position and rotation of some of the vertebrae. Braces have to be worn until
the patient stops growing, then surgery can take place. [61] LoE 5
Milwaukee brace: used for scoliosis. The brace is initially worn for a limited number of
hours until the patient is can comfortably wear it all day and night to eventually lead a
normal life. The brace may only be removed once a day. Creswell suggested 2 exercises
that the patient should do while wearing this brace:
1. Standing, displace the trunk away from the primary lateral pressure pad.
2. Standing, breathe in and expand chest posteriorly on side opposite to primary pressure
pad. [61] LoE 5
When the brace can be discarded, the patient should gradually reduce its use, so long as
their posture remains unchanged. During periods where the brace is not worn, it is
recommended that the patient is as active as possible. [61] LoE 5
Until surgery takes place exercise has to be done twice daily to maintain and improve
mobility in multiple directions, especially for spinal extension and strength of the trunk
muscles. There are different sorts of exercises for every age. Creswell suggests the Klapps'
protocol: [61] LoE 5
 Teach correct pelvic tilting in supine lying, prone lying, standing, and kneestandin g.
 Teach the patient to correct their posture infront of a mirror, so that the shoulders are
directly above the pelvis.
 If the primary curve is deteriorating or measures 25° or more, patients aged 2 1/2 years
upwards are fitted with a Milwaukee Brace. Once this is fitted, it is worn day and night
and is removed only once daily for bathing and exercises.
 If at any time the curve continues to deteriorate rapidly even with a Milwaukee Brace, the
patient may have a corrective localised plaster jacket applied for a period of 3 to 4 months.
This is put on with the patient lying on a frame, with traction. Jacket use usually
considerably improves the scoliosis. When the jacket is removed, Milwaukee Brace use is
resumed immediately and exercises are again done regularly.
 The patient stays in the Milwaukee Brace for a number of years, until surgery is
undertaken, or until all the following criteria are satisfied:
1. They are no longer growing
2. They are able to 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. [61] LoE 5
Post surgery rehabilitation is essential. Children who undergo anterior and posterior
hemivertebral excision have to wear a plaster for 3 months to maintain the spinal
correction. After 3 months of immobilisation, retraining of the postural muscles is crucial
to maintain the stability of the spine. [62] LoE 2b

Neural Tube Defects:

As with spina bifida, therapy depends on the type of condition. Spina bifida occulta does
not require any treatment. With spina bifida aperta, surgery is done immediately after
birth. Physiotherapy is needed following surgery for strength and mobility to make sure
that the child to walk normally when older. Wearing a brace can also help to improve
control and function.
According to Strohkendl et al, children with spina bifida also have shortage of
environmental experience. Specifically selected and individualised physical education,
depending on the child's age, can help a child to acquire the necessary mobility and social
experiences. This is to make sure that there is fulfilment of their individual inclinations,
encouragement of independence, development of community life and the fulfilment of
everyday tasks, [63] LoE 5
Kyphosis:
If kyphosis isn't treated, the curve will continue to progress at approximately 7 degrees
each year. During the adolescent growth spurt, the curve will reach its maximum
orientation and brace treatment during this period was seen to be ineffective. [64] LoE 5
When operative treatment doesn't take place, patients with myelomeningocele and
congenital kyphosis can be managed by modified wheelchairs and orthoses. Patients are
able to function with reasonable comfort with these wheelchair modifications.

https://www.physio-pedia.com/File:Defectsofformation.jpg

Introduction

Congenital scoliosis is caused by the abnormal development of the vertebrae. Hemivertebra, a

condition where there is complete unilateral failure of the vertebral body to form, is a common
cause of congenital scoliosis. There are few reports concerning the ultrasonographic diagnosis
of fetal hemivertebra1-3. We present a case of congenital scoliosis due to hemivertebra detected
prenatally and the ultrasonic findings that led to the diagnosis.

Discussion
Hemivertebra is an uncommon congenital anomaly of the spine in which only one half of the
vertebral body develops. The incidence of hemivertebra is estimated at 5‑ 10:10,000 births
with a male/female ratio of 0.31 for multiple vertebral anomalies and 0.68 for solitary vertebral
anomalies4.
Pathogenesis
At 6 weeks gestational age, 2 lateral chondrification centers arise in the developing vertebral
bodies. These chondrification centers then unite by 7 to 8 weeks gestational age to form the
primary ossification center of the vertebral body. A hemivertebra results from the failure of
one of the lateral chondrification centers to develop5. The defective vertebra acts as a wedge in
the spine leading to excessive lateral curvature (sco-liosis) (fig. 5).

Figure 5: Embryology of the normal spine (top), lateral hemivertebra (middle) and dorsal
hemivertebra (bottom). In red, the normal ossification
centers, in green the defective ossification centers.
Associated anomalies

Hemivertebrae may be isolated or may occur in multiple areas within the spine and is frequently
associated with other congenital anomalies6,7. Hemivertebra is commonly associated with
other musculoskeletal anomalies including those of the spine, ribs, and limbs. Cardiac and
genitourinary tract anomalies are the more common extra‑ musculoskeletal anomalies seen
with hemivertebra, with anomalies of the central nervous system and gastrointestinal tract also
being reported. Hemivertebra may be part of a syndrome including Jarcho‑ Levin,
Klippel‑ Fiel, and VACTERL. The incidence of karyotypic abnormalities in fetuses with
isolated vertebral anomalies is thought to be small. In the largest series, Zelop et al. performed
amniocentesis on 18 fetuses with isolated vertebral anomalies and obtained a normal karyotype
in all 18 cases3.
Differential diagnosis

Hemivertebrae may have a similar ultrasonic appearance to the other vertebral abnormalities
(wedge vertebra, butterfly vertebra, bloc vertebra, bar vertebra or any combination) that cause
congenital scoliosis and in some cases may only be differentiated after careful neonatal
radiologic evaluation. Open neural tube defects may also be associated with abnormal
curvature of the spine but should have other findings differentiating it from hemivertebra.
These include the intracranial changes associated with open neural tube defects as well as
disruption of the skin over the defect and possibly the presence of a
meningocele/myelomeningocele sac.
Prognosis

The prognosis is directly related to the presence or absence of associated anomalies. The
prognosis of isolated hemivertebra is good. Left untreated, 25% of patients with congenital
scoliosis show no progression, 50% progress slowly, and 25% progress rapidly during growth8.
Spinal fusion is the treatment of choice for cases of congenital scoliosis that are progressive or
are of the short, rigid type8. The treatment of congenital scoliosis should occur before
significant deformity occurs.
Recurrence risk
The occurrence of isolated hemivertebrae in siblings is very uncommon. An association of
hemivertebrae with neural defects in siblings has been reported. Wynne‑ Davies performed a
family survey on 337 patients with congenital scoliosis and found that 5 to 10% of sibling of
patients with multiple vertebral anomalies with or without spina bifida had either vertebral
anomalies or spina bifida4. However, she found only one of 245 siblings of 101 infants with a
solitary vertebral defect (including isolated hemivertebra) had a spinal defect and concluded
that isolated defects were sporadic (non‑ familial) in nature and carried no risk to subsequent
siblings. Connor et al. found an incidence of 4% of neural tube defects among siblings with
congenital scoliosis7. In contrast to the previous report, they found an increased incidence of
neural tube defects in siblings of probands with single hemivertebra as well as those with
multiple vertebral defects.
Therefore, it would be reasonable to offer genetic counseling and prenatal diagnosis for
neural tube defects to those patients with a previous child with vertebral anomalies.

Management

When the prenatal diagnosis of hemivertebrae is made, a meticulous search for associated
anomalies should be performed. Chromosomal analysis can be offered, especially in the
presence of associated anomalies. Amniotic fluid alpha‑ fetoprotein concentration can be
assessed if there is a question of an open neural tube defect and the patient is of appropriate
gestational age. Serial ultrasonic evaluation is recommended to follow fetal growth and
evaluate for signs of an open neural tube defect that may not be present at an initial early
ultrasound.
If there are no other complicating factors, standard management of labor and delivery is
recommended. A careful neonatal assessment for associated cardiac and genitourinary
anomalies needs to be performed and the infant should receive long term orthopedic follow‑ up
so treatment can occur, if necessary, prior to the development of serious deformity.
References
1. Abrams SL, Filly RA: Congenital vertebral malformations: Prenatal diagnosis using
Ultrasonography. Radiology 155:762, 1985.
2. Benacerraf B, Greene MF, Barss VA: Prenatal sonographic diagnosis of congenital
hemivertebra. J Ultrasound Med 5:257‑ 259, 1986.
3. Zelop CM, Pretorius DH, Benacerraf BR: Fetal Hemivertebrae: Associated anomalies,
significance, and outcome. Obstet Gynecol 81:412‑ 416, 1993.
4. Wynne‑ Davies, R: Congenital vertebral anomalies: aetiology and relationship to spina bifida
cystica. J Med Genet 12:280‑ 288, 1975.
5. Moore KL, Persaud TVN: The Developing Human, Fifth ed. Philadelphia: WB Saunders,
358‑ 364, 1993.
6. McMaster MJ, David CV: Hemivertebra as a cause of scoliosis. J Bone Joint Surg
68:588‑ 595, 1986.
7. Connor JM, Conner AN, Connor RAC, Tolmie JL, Yeung B, Goudie D: Genetic aspects of
early childhood scoliosis. Am J Med Genet 27:419‑ 424, 1987.
8. Winter RB: Congenital scoliosis. Orthop Clin North Am 19:395‑ 408, 1988.

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Definition: “Butterfly vertebra” is an uncommon congenital anomaly of the spine. It results from the
failure of fusion of the lateral halves of the vertebral body because of persistent notochondal tissue
between them forming a cleft in the center.[1][2]
On frontal X-ray, the two half-vertebrae resemble the wings of a butterfly wings while the processus
spinosus represents the butterfly body.

Figure 1, 2, 3: Frontal and tranverse plane showing the defect of the vertebral body.

History: In an early study of the vertebral column in the South African Bantu, Shore (1930) noted an
unusual fifth thoracic vertebra in a 40-year-old Basutu male. He described the vertebral body as
wedged-shaped, its anterior height reduced by approximately 6.5 mm (40%), and he felt that is clearly
represented a “developmental phenomenon”. He also noted that this apparent expression of sagittal
clefting was the only one observed in 1,936 Bantu vertebrae studied. An example of sagittal clefting
was reported for the skeleton of a middle-aged adult recovered from Krasnojarski Kray near the village
of Podgornoe in eastern Siberia. The site is dated from the sixth to fifth centuries BC. Because its
appearance resembles the wings of the butterfly, so it is called butterfly vertebrae.[3]

Prevalence: The prevalence of butterfly vertebra in the general population is uncommon but poorly
known with less than 100 case reports, yet some dedicated studies have found numbers as high as 1:5000
.[3],[4],[5]

Etiology: unknown

Pathogenesis: It results from separate bilateral ossification center that fail to unite [1] which should
happen around the seventh week of gestational age and end at the 25th week[6]. Abnormal ossification
of the vertebral body happens centrally, probably after incomplete fusion of two cartilaginous centers
with hypoplasia at the junctional site. Butterfly vertebrae can result from a developmental abnormality
leading to regression of the cauda dorsalis and formation of sagittal clefts in the vertebra into right and
left halves. There are usually no symptoms. Butterfly vertebrae of normal height do not necessarily
result in deviation of the spinal column axis. These most common occur in the thoracic region, but
occasionally will be found in the lumber spine.[1]

Sonographic findings: In frontal plane, we see a complete or incomplete cleft in the center of the
vertebral body. Postnatally however, it is easier to confirm diagnosis by MRI.

Differential diagnosis:
• Other vertebral anomalies :
Spina bifida (posteriorly)
Block vertebra (fused vertebrae)
Hemivertebra (failure of development of one side (front/back or lateral of the vertebra)
• Other rare syndromes:[7]
Vertical vertebral body fracture (in adult: seatbelt injury, axial loading)
Spondylothoracic dysplasia (Jacho-Levin syndrome): complex vertebral anomalies with hemi-
vertebrae, rib anomalies, and absent vertebral body.
Alagille syndrome (arteriohepatic dysplasia): single or multiple butterfly vertebrae. Rickets due to
hepatic disease (postnatal diagnosis).
Aicardi syndrome: butterfly vertebra and other vertebral anomalies, restricted to girls, failure to thrive,
“salaam” spasms, hemihypertrophy , partly or completely missing the structure that connects the two
sides of the brain (corpus callosum)

Associated anomalies: Butterfly vertebral may be associated with other congenital abnormalities such
as anterior spina bifida (with or without anterior meningocele), cardiac abnormalities, forgut
abnormalities and spinal diastematomyelia[8][7], neurenteric cysts, anomalies of the lungs,
gastrointestinal tract, or genitourinary tract [7] or a part of some rare syndromes: Pfeiffer, Jarcho-Levin,
Crousen, Alagille[9], Aicaidi syndrome [7], Goldenhar syndrome.[10]
This anomaly may occur in other syndromes and also in healthy individuals. It is generally not of
structural significance.[11][5]12]
Prognosis: The prognosis is related to the presence or absence of associated anomalies. Good prgnosis
with isolated butterfly veterbra[13],[1],[5]

Management: An isolated butterfly vertebra does not require treatment.[2][5] The intervention only
needs for associated anomalies.

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