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DISH can present with spinal stiffness on forward flexion/back extension, or with mild back pain. It is symptomatic for thoracic spinal pain in approximately 80% of patients. Back pain or stiffness is worse in the morning in almost two-thirds of patients. It may also be asymptomatic and discovered as an incidental radiological abnormality. Dysphagia from cervical spine osteophyte impingement of esophagus is reported in some cases. Similar calcification and ossification may be seen at peripheral entheseal sites, including the shoulder, iliac crest, ischial tuberosity, trochanters of the hip, tibial tuberosities, patellae, and bones of the hands and/or feet.
Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as kyphosis, scoliosis, and lordosis).
Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. The most common location is the midthoracic vertebrae, 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.
Associations
Recognised associations are many and include:
Aicardi syndrome,
cleidocranial dysostosis,
gastroschisis 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 dogs are most common in the tail, resulting in a screw shape.
In contrast to STD, the subtype spondylocostal dysostosis, or SCD features intrinsic rib anomalies, in addition to vertebral anomalies. Intrinsic rib anomalies include defects such as birfurcation, broadening and fusion that are not directly related to the vertebral anomalies (such as in STD, where extensive posterior rib fusion occurs due to segmentation defects and extreme shortening of the thoracic vertebral column). In both subtypes, the pulmonary restriction may result in pulmonary hypertension, and have other potential cardiac implications.
Spondylothoracic dysplasia, or STD, has been repeatedly described as an autosomal recessively inherited condition that results in a characteristic fan-like configuration of the ribs with minimal intrinsic rib anomalies. Infants born with this condition typically died early in life due to recurrent respiratory infections and pneumonia due to their restricted thorax. Recently, a report has documented that actual mortality associated with STD is only about 50%, with many survivors leading healthy, independent lives.
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 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 vertebrae.
Including the symptoms listed above, clinical presentations of "wobblers" can also include neck pain and stiffness, difficulty tracking up or gait abnormalities, decreased performance, intermittent or swapping lameness particularly in diagonal pairs, forelimb lameness, abnormal head and neck posture, defensiveness or change in behavior, and abnormal sweat patterns.
A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra. Sometimes known as "neck ribs", their presence is a congenital abnormality located above the normal first rib. A cervical rib is estimated to occur in 0.2% (1 in 500 people) to 0.5% of the population. People may have a cervical rib on the right, left or both sides.
Most cases of cervical ribs are not clinically relevant and do not have symptoms; cervical ribs are generally discovered incidentally. However, they vary widely in size and shape, and in rare cases, they may cause problems such as contributing to thoracic outlet syndrome, because of pressure on the nerves that may be caused by the presence of the rib.
A cervical rib represents a persistent ossification of the C7 lateral costal element. During early development, this ossified costal element typically becomes re-absorbed. Failure of this process results in a variably elongated transverse process or complete rib that can be anteriorly fused with the T1 first rib below.
On imaging, cervical ribs can be distinguished because their transverse processes are directed inferolaterally, whereas those of the adjacent thoracic spine are directed anterolaterally.
Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have.
People with the condition usually present with a painless swelling in the area of the clavicles at 2–3 years of age. Common features are:
- Clavicles (collarbones) can be partly missing leaving only the medial part of the bone. In 10% cases, they are completely missing. If the collarbones are completely missing or reduced to small vestiges, this allows hypermobility of the shoulders including ability to touch the shoulders together in front of the chest. The defect is bilateral 80% of the time. Partial collarbones may cause nerve damage symptoms and therefore have to be removed by surgery.
- The mandible is prognathic due to hypoplasia of maxilla (micrognathism) and other facial bones.
- A soft spot or larger soft area in the top of the head where the fontanelle failed to close, or the fontanelle closes late.
- Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.
- The permanent teeth include supernumerary teeth. Unless these supernumeraries are removed they will crowd the adult teeth in what already may be an underdeveloped jaw. If so, the supernumeraries will probably need to be removed to make space for the adult teeth. Up to 13 supernumarary teeth have been observed. Teeth may also be displaced. Cementum formation may be deficient.
- Failure of eruption of permanent teeth.
- Bossing (bulging) of the forehead.
- Open skull sutures, large fontanelles.
- Hypertelorism.
- Delayed ossification of bones forming symphysis pubis, producing a widened symphysis.
- Coxa vara can occur, limiting abduction and causing Trendelenburg gait.
- Short middle fifth phalanges, sometimes causing short and wide fingers.
- Vertebral abnormalities.
- On rare occasions, brachial plexus irritation can occur.
- Scoliosis, spina bifida and syringomyelia have also been described.
Other features are: parietal bossing, basilar invagination (atlantoaxial impaction), persistent metopic suture, abnormal ear structures with hearing loss, supernumerary ribs, hemivertebrae with spondylosis, small and high scapulae, hypoplasia of illiac bones, absence of the pubic bone, short / absent fibular bones, short / absent radial bones, hypoplastic terminal phalanges.
Pectus carinatum is an overgrowth of costal cartilage causing the sternum to protrude forward. It primarily occurs among four different patient groups, and males are more frequently affected than females. Most commonly, pectus carinatum develops in 11-to-14-year-old pubertal males undergoing a growth spurt. Some parents report that their child's pectus carinatum seemingly popped up overnight. Second most common is the presence of pectus carinatum at or shortly after birth. The condition may be evident in newborns as a rounded anterior chest wall. As the child reaches age 2 or 3 years of age, the outward sternal protrusion becomes more pronounced. Pectus carinatum can also be caused by vitamin D deficiency in children (Rickets) due to deposition of unmineralized osteoid. Least common is a pectus carinatum malformation following open-heart surgery or in children with poorly controlled bronchial asthma.
Pectus carinatum is generally a solitary, non-syndromic abnormality. However, the condition may be present in association with other syndromes: Turner syndrome, Noonan syndrome, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Morquio syndrome, trisomy 18, trisomy 21, homocystinuria, osteogenesis imperfecta, multiple lentigines syndrome (LEOPARD syndrome), Sly syndrome (mucopolysaccharidosis type VII), and scoliosis.
In about 25% of cases of pectus carinatum, the patient has a family member with the condition.
Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened, and the development of a limp. It is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, causing it to bend under the weight of the body. This may either be congenital or the result of a bone disorder. The most common cause of coxa vara is either congenital or developmental. Other common causes include metabolic bone diseases (e.g. Paget's disease of bone), post-Perthes deformity, osteomyelitis, and post traumatic (due to improper healing of a fracture between the greater and lesser trochanter). Shepherd's Crook deformity is a severe form of coxa vara where the proximal femur is severely deformed with a reduction in the neck shaft angle beyond 90 degrees. It is most commonly a sequela of osteogenesis imperfecta, Pagets disease, osteomyelitis, tumour and tumour-like conditions (e.g. fibrous dysplasia).
Coxa vara can happen in cleidocranial dysostosis.
People with pectus carinatum usually develop normal hearts and lungs, but the malformation may prevent these from functioning optimally. In moderate to severe cases of pectus carinatum, the chest wall is rigidly held in an outward position. Thus, respirations are inefficient and the individual needs to use the accessory muscles for respiration, rather than normal chest muscles, during strenuous exercise. This negatively affects gas exchange and causes a decrease in stamina. Children with pectus malformations often tire sooner than their peers, due to shortness of breath and fatigue. Commonly concurrent is mild to moderate asthma.
Some children with pectus carinatum also have scoliosis (i.e., curvature of the spine). Some have mitral valve prolapse, a condition in which the heart mitral valve functions abnormally. Connective tissue disorders involving structural abnormalities of the major blood vessels and heart valves are also seen. Although rarely seen, some children have other connective tissue disorders, including arthritis, visual impairment and healing impairment.
Apart from the possible physiologic consequences, pectus malformations can have a significant psychologic impact. Some people, especially those with milder cases, live happily with pectus carinatum. For others, though, the shape of the chest can damage their self-image and confidence, possibly disrupting social connections and causing them to feel uncomfortable throughout adolescence and adulthood. As the child grows older, bodybuilding techniques may be useful for balancing visual impact.
A less common variant of pectus carinatum is "pectus arcuatum" (also called type 2 pectus excavatum, chondromanubrial malformation or Currarino–Silverman syndrome or pouter pigeon malformation), which produces a manubrial and upper sternal protrusion, particularly also at the sternal angle. Pectus arcuatum is often confused with a combination of pectus carinatum and pectus excavatum, but in pectus arcuatum the visual appearance is characterized by a protrusion of the costal cartilages and there is no depression of the sternum.
Synostosis (plural: synostoses) is fusion of two bones. It can be normal in puberty, fusion of the epiphysis, or abnormal. When synostosis is abnormal it is a type of dysostosis.
Examples of synostoses include:
- craniosynostosis – an abnormal fusion of two or more cranial bones;
- radioulnar synostosis – the abnormal fusion of the radius and ulna bones of the forearm;
- tarsal coalition – a failure to separately form all seven bones of the tarsus (the hind part of the foot) resulting in an amalgamation of two bones; and
- syndactyly – the abnormal fusion of neighboring digits.
Synostosis within joints can cause ankylosis.
The presence of a cervical rib can cause a form of thoracic outlet syndrome due to compression of the lower trunk of the brachial plexus or subclavian artery. These structures become encroached upon by the cervical rib and scalene muscles.
Compression of the brachial plexus may be identified by weakness of the muscles around the muscles in the hand, near the base of the thumb. Compression of the subclavian artery is often diagnosed by finding a positive Adson's sign on examination, where the radial pulse in the arm is lost during abduction and external rotation of the shoulder. A positive Adson's sign is non-specific for the presence of a cervical rib however, as many individuals without a cervical rib will have a positive test.
A retrolisthesis is a posterior displacement of one vertebral body with respect to the subjacent vertebra to a degree less than a luxation (dislocation). Clinically speaking, retrolisthesis is the opposite of spondylolisthesis (anterior displacement of one vertebral body on the subjacent vertebral body), and is also called retrospondylolisthesis. Retrolistheses are most easily diagnosed on lateral x-ray views of the spine. Views, where care has been taken to expose for a true lateral view without any rotation, offer the best diagnostic quality.
Retrolistheses are found most prominently in the cervical spine and lumbar region but can also be seen in the thoracic area.
Retrolisthesis may lead to symptoms of greatly varying intensity and distribution. This is because of the variable nature of the impact on nerve tissue and of the mechanical impact on the spinal joints themselves.
Structural instability may be Experienced as a local uneasiness through to a more far reaching structural compensatory distortion involving the whole spine. If the joints are stuck in a retrolisthesis configuration there may also be changes to range of motion.
Pain may be experienced as a result of irritation to the sensory nerve roots by bone depending on the degree of displacement and the presence of any rotatory positioning of the individual spinal motion segments. The soft tissue of the disc is often caused to bulge in retrolistheses. These cannot be determined by plain films, as the x-ray passes through the soft tissue. A study by Giles et al., stated that Sixteen of the thirty patients (53%) had retrolisthesis of L5 on S1 ranging from 2–9 mm; these patients had either intervertebral disc bulging or protrusion on CT examination ranging from 3–7 mm into the spinal canal. Fourteen patients (47%) without retrolisthesis (control group) did not show any retrolisthesis and the CT did not show any bulge/protrusion. On categorizing x-ray and CT pathology as being present or not, the well positioned i.e. true lateral plain x-ray film revealed a sensitivity and specificity of 100% ([95% Confidence Interval. = [89%–100%]) for bulge/protrusion in this preliminary study.” ()
Spinal cord compressions are also possible with patients experiencing pain, rigidity and neurologic signs that may follow some distance along nerves to cause symptoms at some distance from the location of the retrolisthesis.
Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory spondyloarthropathy which predominantly affects the spine. It is characterized by ankylosis and enthesopathy (ossification of the ligaments and entheses). It most commonly affects the thoracic and thoraco-lumbar spine, but involvement is variable and can include the entire spine.
These are protrusions of disc material into the surface of the vertebral body, which may contact the marrow of the vertebra and lead to inflammation. The protrusions are also associated with necrosis of the vertebral bone and the question of whether these protrusions and inflammation cause the necrosis, or whether the cartilage migrates into areas that have become necrotic due to other conditions, is under investigation.
They may or may not be symptomatic, and their link to back pain is controversial. Williams and colleagues note that this relationship may be due to lumbar disc disease, as the two commonly occur simultaneously.
The vertebral column, also known as the backbone or spine, is part of the axial skeleton. The vertebral column is the defining characteristic of a vertebrate, in which the notochord (a flexible rod of uniform composition) found in all chordates has been replaced by a segmented series of bones—vertebrae separated by intervertebral discs. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord.
There are about 50,000 species of animals that have a vertebral column. The human vertebral column is one of the most-studied examples.
Wobbler disease is probably inherited in the Borzoi, Great Dane, Doberman, and Basset Hound. Instability of the vertebrae of the neck (usually the caudal neck) causes spinal cord compression. In younger dogs such as Great Danes less than two years of age, wobbler disease is caused by stenosis (narrowing) of the vertebral canal related to degeneration of the dorsal articular facets and subsequent thickening of the associated joint capsules and ligaments. A high-protein diet may contribute to its development. In middle-aged and older dogs such as Dobermans, intervertebral disc disease leads to bulging of the disc or herniation of the disc contents, and the spinal cord is compressed. In Great Danes, the C to C vertebrae are most commonly affected; in Dobermans, the C to C vertebrae are affected.
The disease tends to be gradually progressive. Symptoms such as weakness, ataxia, and dragging of the toes start in the rear legs. Dogs often have a crouching stance with a downward flexed neck. The disease progresses to the front legs, but the symptoms are less severe. Neck pain is sometimes seen. Symptoms are usually gradual in onset, but may progress rapidly following trauma. X-rays may show misaligned vertebrae and narrow disk spaces, but it is not as effective as a myelogram, which reveals stenosis of the vertebral canal. Magnetic resonance imaging has been shown to be more effective at showing the location, nature, and severity of spinal cord compression than a myelogram. Treatment is either medical to control the symptoms, usually with corticosteroids and cage rest, or surgical to correct the spinal cord compression. The prognosis is guarded in either case. Surgery may fully correct the problem, but it is technically difficult and relapses may occur. Types of surgery include ventral decompression of the spinal cord (ventral slot technique), dorsal decompression, and vertebral stabilization. One study showed no significant advantage to any of the common spinal cord decompression procedures. Another study showed that electroacupuncture may be a successful treatment for Wobbler disease. A new surgical treatment using a proprietary medical device has been developed for dogs with disc-associated wobbler disease. It implants an artificial disc (cervical arthroplasty) in place of the affected disc space.
A flexion teardrop fracture is a fracture of the anteroinferior aspect of a cervical vertebral body due to flexion of the spine along with vertical axial compression. A teardrop fracture is usually associated with a spinal cord injury, often a result of displacement of the posterior portion of the vertebral body into the spinal canal.
Radioulnar synostosis is one of the more common failures of separation of parts of the upper limb. There are two general types: one is characterized by fusion of the radius and ulna at their proximal borders and the other is fused distal to the proximal radial epiphysis. Most cases are sporadic, congenital (due to a defect in longitudinal segmentation at the 7th week of development) and less often post-traumatic, bilateral in 60%, and more common in males. Familial cases in association with autosomal dominant transmission appear to be concentrated in certain geographic regions, such as Sicily.
The condition frequently is not noted until late childhood, as function may be normal, especially in unilateral cases. Increased wrist motion may compensate for the absent forearm motion. It has been suggested that individuals whose forearms are fixed in greater amounts of pronation (over 60 degrees) face more problems with function than those with around 20 degrees of fixation. Pain is generally not a problem, unless radial head dislocation should occur.
Most examples of radioulnar synostosis are isolated (non-syndromic). Syndromes that may be accompanied by radioulnar synostosis include X chromosome polyploidy (e.g., XXXY) and other chromosome disorders (e.g., 4p- syndrome, Williams syndrome), acrofacial dysostosis, Antley–Bixler syndrome, genitopatellar syndrome, Greig cephalopolysyndactyly syndrome, hereditary multiple osteochondromas (hereditary multiple exostoses), limb-body wall complex, and Nievergelt syndrome.
Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by turning into bone (ossification). Craniosynostosis has following kinds: scaphocephaly, trigonocephaly, plagiocephaly, anterior plagiocephaly, posterior plagiocephaly, brachycephaly, oxycephaly, pansynostosis.
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the skull often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically normal.
The condition is either inherited from a person's parents or occurs as a new mutation. It is inherited in an autosomal dominant manner. It is due to a defect in the RUNX2 gene which is involved in bone formation. Diagnosis is suspected based on symptoms and X-rays with confirmation by genetic testing. Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome.
Treatment includes supportive measures such as a device to protect the skull and dental care. Surgery may be performed to fix certain bone abnormalities. Life expectancy is generally normal.
It affects about one per million people. Males and females are equally commonly affected. Modern descriptions of the condition date to at least 1896. The term is from "cleido" meaning collarbone, "cranial" meaning head, and "dysostosis" meaning formation of abnormal bone.
Schmorl's nodes can be detected with x-ray, although they can be imaged better by CT or MRI. They are considered to be vertical disc herniations through the cartilaginous vertebral body endplates. Schmorl's nodes can sometimes be seen radiographically, however they are more often seen on MRI, even when not visible on plain film x-ray. They may or may not be symptomatic, and their etiological significance for back pain is controversial. In a study in Spine by Hamanishi, et al., Schmorl's nodes were observed on MRI in 19% of 400 patients with back pain, and in only 9% of an asymptomatic control group. The authors concluded that Schmorl's nodes are areas of "vertical disc herniation" through areas of weakness in the endplate.
The hallmark of the condition is a sunken appearance of the sternum. The most common form is a cup-shaped concavity, involving the lower end of the sternum; also a broader concavity involving the upper costal cartilages is possible. The lower-most ribs may protrude ("flared ribs"). Pectus excavatum defects may be symmetric or asymmetric.
People may also experience chest and back pain, which is usually of musculoskeletal origin.
In mild cases, cardiorespiratory function is normal, although the heart can be displaced and/or rotated. In severe cases, mitral valve prolapse may be present and physical capability may be limited due to base lung capacity being decreased.
Psychological symptoms manifest with feelings of embarrassment, social anxiety, shame, limited capacity for activities and communication, negativity, intolerance, frustration, and even depression.
In early skeletal development, a common physis serves the greater trochanter and the capital femoral epiphysis. This physis divides as growth continues in a balance that favors the capital epiphysis and creates a normal neck shaft angle (angle between the femoral shaft and the neck). The corresponding angle at maturity is 135 ± 7 degrees. Another angle used for the measurement of coxa vara is the cervicofemoral angle which is approximately 35 degrees at infancy and increases to 45 degrees after maturity.