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Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the
spinal cord The spinal cord is a long, thin, tubular structure made up of nervous tissue that extends from the medulla oblongata in the lower brainstem to the lumbar region of the vertebral column (backbone) of vertebrate animals. The center of the spinal c ...
by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of
vertebra Each vertebra (: vertebrae) is an irregular bone with a complex structure composed of bone and some hyaline cartilage, that make up the vertebral column or spine, of vertebrates. The proportions of the vertebrae differ according to their spina ...
e.


Lumbarization and sacralization

''Lumbarization'' is an anomaly in the spine. It is defined by the nonfusion of the first and second segments of the
sacrum The sacrum (: sacra or sacrums), in human anatomy, is a triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1S5) between ages 18 and 30. The sacrum situates at the upper, back part of the pelvic cavity, ...
. The
lumbar spine The lumbar vertebrae are located between the thoracic vertebrae and pelvis. They form the lower part of the back in humans, and the tail end of the back in quadrupeds. In humans, there are five lumbar vertebrae. The term is used to describe t ...
subsequently appears to have six
vertebrae Each vertebra (: vertebrae) is an irregular bone with a complex structure composed of bone and some hyaline cartilage, that make up the vertebral column or spine, of vertebrates. The proportions of the vertebrae differ according to their spinal ...
or segments, not five. This sixth lumbar vertebra is known as a transitional vertebra. Conversely the sacrum appears to have only four segments instead of its designated five segments. Lumbosacral transitional vertebrae consist of the process of the last lumbar vertebra fusing with the first sacral segment. While only around 10 percent of adults have a spinal abnormality due to
genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian ...
, a sixth lumbar vertebra is one of the more common abnormalities. Dorland's Medical Dictionary ''Sacralization of the fifth lumbar vertebra'' (or ''sacralization'') is a congenital anomaly, in which the
transverse process Each vertebra (: vertebrae) is an irregular bone with a complex structure composed of bone and some hyaline cartilage, that make up the vertebral column or spine, of vertebrates. The proportions of the vertebrae differ according to their spina ...
of the last lumbar vertebra (L5) fuses to the
sacrum The sacrum (: sacra or sacrums), in human anatomy, is a triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1S5) between ages 18 and 30. The sacrum situates at the upper, back part of the pelvic cavity, ...
on one side or both, or to ilium, or both. These anomalies are observed in about 3.5 percent of people, and it is usually bilateral but can be unilateral or incomplete ( ipsilateral or
contralateral Standard anatomical terms of location are used to describe unambiguously the anatomy of humans and other animals. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position prov ...
rudimentary facets) as well. Although sacralization may be a cause of
low back pain Low back pain or wiktionary:lumbago#Etymology, lumbago is a common musculoskeletal disorders, disorder involving the muscles, nerves, and bones of the back, in between the lower edge of the ribs and the lower fold of the buttocks. Pain can var ...
, it is asymptomatic in many cases (especially bilateral type). Low back pain in these cases most likely occurs due to
biomechanics Biomechanics is the study of the structure, function and motion of the mechanical aspects of biological systems, at any level from whole organisms to Organ (anatomy), organs, Cell (biology), cells and cell organelles, using the methods of mechani ...
. In sacralization, the L5-S1
intervertebral disc An intervertebral disc (British English), also spelled intervertebral disk (American English), lies between adjacent vertebrae in the vertebral column. Each disc forms a fibrocartilaginous joint (a symphysis), to allow slight movement of the ver ...
may be thin and narrow. This abnormality is found by
X-ray An X-ray (also known in many languages as Röntgen radiation) is a form of high-energy electromagnetic radiation with a wavelength shorter than those of ultraviolet rays and longer than those of gamma rays. Roughly, X-rays have a wavelength ran ...
. Sacralization of L6 means L6 attaches to S1 via a rudimentary joint. This L6-S1 joint creates additional motion, increasing the potential for motion-related stress and lower back pain/conditions. This condition can usually be treated without surgery, injecting steroid medication at the pseudoarticulation instead. Additionally, if L6 fuses to another vertebra this is increasingly likely to cause lower back pain. The presence of a sixth vertebra in the space where five vertebrae normally reside also decreases the flexibility of the spine and increases the likelihood of injury.


Hemivertebrae

Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as
kyphosis Kyphosis () is an abnormally excessive convex curvature of the Spinal column, spine as it occurs in the Thoracic spine, thoracic and sacrum, sacral regions. Abnormal inward concave ''lordotic'' curving of the Cervical spine, cervical and Lumba ...
,
scoliosis Scoliosis (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others ...
, and lordosis). Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. The most common location is the mid
thoracic vertebrae In vertebrates, thoracic vertebrae compose the middle segment of the vertebral column, between the cervical vertebrae and the lumbar vertebrae. In humans, there are twelve thoracic vertebra (anatomy), vertebrae of intermediate size between the ce ...
, especially the eighth (T8). Neurologic signs result from severe angulation of the spine, narrowing of the spinal canal, instability of the spine, and luxation or fracture of the vertebrae. Signs include rear limb weakness or paralysis, urinary or fecal incontinence, and spinal pain. Most cases of hemivertebrae have no or mild symptoms, so treatment is usually conservative. Severe cases may respond to surgical spinal cord decompression and vertebral stabilization. Recognised associations are many and include:
Aicardi syndrome Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infan ...
, cleidocranial dysostosis,
gastroschisis Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a hole next to the belly button. The size of the hole is variable, and other organs including the stomach and liver may also occur outside the b ...
3, Gorlin syndrome, fetal pyelectasis 3, Jarcho-Levin syndrome, OEIS complex, VACTERL association. The probable cause of hemivertebrae is a lack of blood supply causing part of the vertebrae not to form. Hemivertebrae in
dog The dog (''Canis familiaris'' or ''Canis lupus familiaris'') is a domesticated descendant of the gray wolf. Also called the domestic dog, it was selectively bred from a population of wolves during the Late Pleistocene by hunter-gatherers. ...
s are most common in the tail, resulting in a
screw A screw is an externally helical threaded fastener capable of being tightened or released by a twisting force (torque) to the screw head, head. The most common uses of screws are to hold objects together and there are many forms for a variety ...
shape.


Block vertebrae

Block vertebrae occur when there is improper segmentation of the vertebrae, leading to parts of or the entire vertebrae being fused. The adjacent vertebrae fuse through their intervertebral discs and also through other intervertebral joints so that it can lead to blocking or stretching of the exiting nerve roots from that segment. It may lead to certain neurological problems depending on the severity of the block. It can increase stress on the inferior and the superior intervertebral joints. It can lead to an abnormal angle in the spine, there are certain syndromes associated with block vertebrae; for example, Klippel–Feil syndrome. The
sacrum The sacrum (: sacra or sacrums), in human anatomy, is a triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1S5) between ages 18 and 30. The sacrum situates at the upper, back part of the pelvic cavity, ...
is a normal block vertebra.


Fossil record

Evidence for block vertebrae found in the fossil record is studied by paleopathologists, specialists in ancient disease and injury. A block vertebra has been documented in ''T. rex''. This suggests that the basic development pattern of vertebrae goes at least as far back as the most recent common ancestor of
archosaurs Archosauria () or archosaurs () is a clade of diapsid sauropsid tetrapods, with birds and crocodilians being the only extant taxon, extant representatives. Although broadly classified as reptiles, which traditionally exclude birds, the cladistics ...
and
mammals A mammal () is a vertebrate animal of the class Mammalia (). Mammals are characterised by the presence of milk-producing mammary glands for feeding their young, a broad neocortex region of the brain, fur or hair, and three middle e ...
. The tyrannosaur's block vertebra was probably caused by a "failure of the resegmentation of the
sclerotome The somites (outdated term: primitive segments) are a set of bilaterally paired blocks of paraxial mesoderm that form in the embryogenesis, embryonic stage of somitogenesis, along the head-to-tail axis in segmentation (biology), segmented animals. ...
s".Molnar, R. E., 2001, Theropod paleopathology: a literature survey: In: Mesozoic Vertebrate Life, edited by Tanke, D. H., and Carpenter, K., Indiana University Press, p. 337-363. File:Blockwirbel degenerativ.jpg, Block vertebrae of the cervical spine (vertebrae 4 and 5). Probably based on degenerative or inflammatory changes. File:Block- und Halbwirbel.jpg, Several congenital block vertebrae in the transition from the thoracic to the lumbar spine and hemivertebrae. File:Partieller Blockwirbel.jpg, Congenital block vertebra in the lumbar spine (partial vertebrae 3 and 4). The rear portion of the disc still exists. File:Blockwirbel CT VR frontal.jpg, Congenital block vertebra of the lumbar spine. CT volume rendering. File:Blockwirbel CT VR seitlich.jpg, Congenital block vertebra of the lumbar spine. CT volume rendering.


Butterfly vertebrae

Butterfly vertebrae have a sagittal cleft through the body of the vertebrae and a funnel shape at the ends. This gives the appearance of a
butterfly Butterflies are winged insects from the lepidopteran superfamily Papilionoidea, characterized by large, often brightly coloured wings that often fold together when at rest, and a conspicuous, fluttering flight. The oldest butterfly fossi ...
on an
x-ray An X-ray (also known in many languages as Röntgen radiation) is a form of high-energy electromagnetic radiation with a wavelength shorter than those of ultraviolet rays and longer than those of gamma rays. Roughly, X-rays have a wavelength ran ...
. It is caused by persistence of the
notochord The notochord is an elastic, rod-like structure found in chordates. In vertebrates the notochord is an embryonic structure that disintegrates, as the vertebrae develop, to become the nucleus pulposus in the intervertebral discs of the verteb ...
(which usually only remains as the center of the
intervertebral disc An intervertebral disc (British English), also spelled intervertebral disk (American English), lies between adjacent vertebrae in the vertebral column. Each disc forms a fibrocartilaginous joint (a symphysis), to allow slight movement of the ver ...
) during vertebrae formation. There are usually no symptoms. There are also coronal clefts mainly in skeletal dysplasias such as chondrodysplasia punctata. In dogs, butterfly vertebrae occur most often in Bulldogs, Pugs, and Boston Terriers. File:Schmetterlingswirbel.jpg, Butterfly vertebra (red). Normal vertebra for comparison (blue). File:Volume rendering of CT of butterfly vertebrae.jpg,
Volume rendering In scientific visualization and computer graphics, volume rendering is a set of techniques used to display a 2D projection of a 3D discretely sampled data set, typically a 3D scalar field. A typical 3D data set is a group of 2D slice image ...
of a
CT scan A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or ...
of the lumbar vertebral column, showing butterfly vertebrae at several levels, most typically in L1.


Transitional vertebrae

Transitional vertebrae have the characteristics of two types of vertebra. The condition usually involves the vertebral arch or transverse processes. It occurs at the cervicothoracic, thoracolumbar, or lumbosacral junction. For instance, the transverse process of the last cervical vertebra may resemble a rib. A transitional vertebra at the lumbosacral junction can cause
arthritis Arthritis is a general medical term used to describe a disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, Joint effusion, swelling, and decreased range of motion of ...
, disk changes, or thecal sac compression. Back pain associated with lumbosacral transitional vertebrae (LSTV) is known as Bertolotti's syndrome. One study found that male
German Shepherd Dog The German Shepherd, also known in Britain as an Alsatian, is a German breed of working dog of medium to large size. The breed was developed by Max von Stephanitz using various traditional German herding dogs from 1899. It was originally b ...
s with a lumbosacral transitional vertebra are at greater risk for
cauda equina syndrome Cauda equina syndrome (CES) is a condition that occurs when the bundle of nerves below the end of the spinal cord known as the cauda equina is damaged. Signs and symptoms include low back pain, sciatica, pain that radiates down the leg, numbness ...
, which can cause rear limb weakness and incontinence. The significance of transitional vertebrae has been questioned by one study finding similar prevalence in the general population as those with low back pain, but more recent study found a large difference.


Spina bifida

Spina bifida Spina bifida (SB; ; Latin for 'split spine') is a birth defect in which there is incomplete closing of the vertebral column, spine and the meninges, membranes around the spinal cord during embryonic development, early development in pregnancy. T ...
is characterized by a midline cleft in the vertebral arch. It usually causes no symptoms in dogs. It is seen most commonly in Bulldogs and Manx cats. In Manx it accompanies a condition known as sacrocaudal dysgenesis that gives these cats their characteristic tailless or stumpy tail appearance. It is inherited in Manx as an
autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
trait.


Associations

Vertebral anomalies is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association: * V – Vertebral anomalies * A – Anal atresia * C – Cardiovascular anomalies * T – Tracheoesophageal fistula * E – Esophageal atresia * R – Renal (kidney) and/or radial anomalies * L – Limb defects


References


External links

{{Congenital malformations and deformations of musculoskeletal system Dog musculoskeletal disorders Congenital disorders of musculoskeletal system