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Hip dysplasia can range from barely detectable to severely malformed or dislocated.
The congenital form, teratologic or non-reducible dislocation occurs as part of more complex conditions.
The condition can be bilateral or unilateral:
- If both hip joints are affected one speaks of "bilateral" dysplasia. In this case some diagnostic indicators like asymmetric folds and leg-length inequality do not apply.
- In unilateral dysplasia only one joint shows deformity, the contralateral side may show resulting effects. In the majority of unilateral cases the left hip has the dysplasia.
If the joint is fully dislocated a false acetabulum often forms (often higher up on the pelvis) opposite the dislocated femoral head position.
In acetabular dysplasia the acetabulum (socket) is too shallow or deformed. The center-edge angle is measured as described by Wiberg. Two forms of femoral dysplasia are coxa vara, in which the femur head grows at too narrow an angle to the shaft, and coxa valga, in which the angle is too wide.
A rare type, the "Beukes familial hip dysplasia" is found among Afrikaners that are members of the Beukes family. The femur head is flat and irregular. People develop osteoarthritis at an early age.
Hip dysplasia is an abnormality of the hip joint where the socket portion does not fully cover the ball portion, resulting in an increased risk for joint dislocation. Hip dysplasia may occur at birth or develop in early life. Regardless, it does not typically produce symptoms in babies less than a year old. Occasionally one leg may be shorter than the other. The left hip is more often affected than the right. Complications without treatment can include arthritis, limping, and low back pain.
Risk factors for hip dysplasia include family history, certain swaddling practices, and breech birth. If one identical twin is affected, there is a 40% risk the other will also be affected. Screening all babies for the condition by physical examination is recommended. Ultrasonography may also be useful.
Many of those with mild instability resolve without specific treatment. In more significant cases, if detected early, bracing may be all that is required. In cases that are detected later, surgery and casting may be needed. About 7.5% of hip replacements are done to treat problems which have arisen from hip dysplasia.
About 1 in 1,000 babies have hip dysplasia. Hip instability of meaningful importance occurs in one to two percent of babies born at term. Females are affected more often than males. Hip dysplasia was described at least as early as the 300s BC by Hippocrates.
Elbow dysplasia is a condition involving multiple developmental abnormalities of the elbow-joint in the dog, specifically the growth of cartilage or the structures surrounding it. These abnormalities, known as 'primary lesions', give rise to osteoarthritic processes. Elbow dysplasia is a common condition of certain breeds of dogs.
Most primary lesions are related to osteochondrosis, which is a disease of the joint cartilage and specifically Osteochondritis dissecans (OCD or OD), the separation of a flap of cartilage on the joint surface. Other common causes of elbow dysplasia included ununited anconeal process (UAP) and fragmented or ununited medial coronoid process (FCP or FMCP).
Osteochondritis dissecans is difficult to diagnose clinically as the animal may only exhibit an unusual gait. Consequently, OCD may be masked by, or misdiagnosed as, other skeletal and joint conditions such as hip dysplasia. The problem develops in puppyhood although often subclinically, and there may be pain or stiffness, discomfort on extension, or other compensating characteristics. Diagnosis generally depends on X-rays, arthroscopy, or MRI scans. While cases of OCD of the stifle go undetected and heal spontaneously, others are exhibited in acute lameness. Surgery is recommended once the animal has been deemed lame, before then non-surgical control is usually used.
Children with autosomal dominant MED experience joint pain and fatigue after exercising. Their x-rays show small and irregular ossifications centers, most apparent in the hips and knees. A waddling gait may develop. Flat feet are very common.
The spine is normal but may have a few irregularities, such as scoliosis. There are very small capital femoral epiphyses and hypoplastic, poorly formed acetabular roofs. Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. By adulthood, people with MED are of short stature or in the low range of normal and have short limbs relative to their trunks. Frequently, movement becomes limited at the major joints, especially at the elbows and hips. However, loose knee and finger joints can occur. Signs of osteoarthritis usually begin in early adulthood.
Children with recessive MED experience joint pain, particularly of the hips and knees, and commonly have deformities of the hands, feet, knees, or vertebral column (like scoliosis). Approximately 50% of affected children have abnormal findings at birth (such as club foot or twisted metatarsals, cleft palate, inward curving fingers due to underdeveloped bones and brachydactyly, or ear swelling caused by injury during birth). Height is in the normal range before puberty. As adults, people with recessive MED are only slightly more diminished in stature, but within the normal range. Lateral knee radiography can show multi-layered patellae.
Petplan Australia reported that signs of arthritis in dogs and cats include stiffness, difficulty moving, lethargy, irritability, and cat or dog may lick, chew or bite at sore joints.
Dogs might exhibit signs of stiffness or soreness after rising from rest, reluctance to exercise, bunny-hopping or other abnormal gait (legs move more together when running rather than swinging alternately), lameness, pain, reluctance to stand on rear legs, jump up, or climb stairs, subluxation or dislocation of the hip joint, or wasting away of the muscle mass in the hip area. Radiographs (X-rays) often confirm the presence of hip dysplasia, but radiographic features may not be present until two years of age in some dogs. Moreover, many affected dogs do not show clinical signs, but some dogs manifest the problem before seven months of age, while others do not show it until well into adulthood.
In part this is because the underlying hip problem may be mild or severe, may be worsening or stable, and the body may be more or less able to keep the joint in repair well enough to cope. Also, different animals have different pain tolerances and different weights, and use their bodies differently, so a light dog who only walks, will have a different joint use than a more heavy or very active dog. Some dogs will have a problem early on, others may never have a real problem at all.
"Cleidocranial dysostosis" is a general skeletal condition named for the collarbone (cleido-) and cranium deformities which people with it often have. Common features include:
- Partly or completely missing collarbones.
- A soft spot or larger soft area in the top of the head where the fontanelle failed to close.
- Bones and joints are underdeveloped.
- The permanent teeth include supernumerary teeth.
- Permanent teeth not erupting
- Bossing (bulging) of the forehead.
- Hypertelorism
Proximal femoral focal deficiency (PFFD), also known as Congenital Femoral Deficiency (CFD), is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The disorder may affect one side or both, with the hip being deformed and the leg shortened.
It is commonly linked with the absence or shortening of a leg bone (fibular hemimelia) and the absence of a kneecap. Other linked birth defects include the dislocation or instability of the joint between the femur and the kneecap, a shortened tibia or fibula, and foot deformities.
There are typically four classes (or "types") of PFFD, ranging from class A to class D, as detailed by Aitken.
Elbow Dysplasia is a significant genetically determined problem in many breeds of dog, often manifesting from puppyhood and continuing for life. In elbow dysplasia, the complex elbow joint suffers from a structural defect, often related to its cartilage. This initial condition, known as a "primary lesion", causes an abnormal level of wear and tear and gradual degradation of the joint, at times disabling or with chronic pain. Secondary processes such as inflammation and osteoarthritis can arise from this damage which increase the problem and add further problems of their own.
Usually, a SCFE causes groin pain, but it may cause pain in only the thigh or knee, because the pain may be referred along the distribution of the obturator nerve. The pain may occur on both sides of the body (bilaterally), as up to 40 percent of cases involve slippage on both sides. After a first SCFE, when a second SCFE occurs on the other side, it typically happens within one year after the first SCFE. About 20 percent of all cases include a SCFE on both sides at the time of presentation.
Signs of a SCFE include a waddling gait, decreased range of motion. Often the range of motion in the hip is restricted in internal rotation, abduction, and flexion. A person with a SCFE may prefer to hold their hip in flexion and external rotation.
"Fibrous dysplasia" causes bone thinning and growths or lesions in one or more bones of the human body.
These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.
Fibrous dysplasia is a mosaic disease that can involve any part or combination of the craniofacial, axillary, and/or appendicular skeleton. The type and severity of the complications therefore depend on the location and extent of the affected skeleton. The clinical spectrum is very broad, ranging from an isolated, asymptomatic monostotic lesion discovered incidentally, to severe disabling disease involving practically the entire skeleton and leading to loss of vision, hearing, and/or mobility.
Individual bone lesions typically manifest during the first few years of life and expand during childhood. The vast majority of clinically significant bone lesions are detectable by age 10 years, with few new and almost no clinically significant bone lesions appearing after age 15 years. Total body scintigraphy is useful to identify and determine the extent of bone lesions, and should be performed in all patients with suspected fibrous dysplasia.
Children with fibrous dysplasia in the appendicular skeleton typically present with limp, pain, and/or pathologic fractures. Frequent fractures and progressive deformity may lead to difficulties with ambulation and impaired mobility. In the craniofacial skeleton, fibrous dysplasia may present as a painless “lump” or facial asymmetry. Expansion of craniofacial lesions may lead to progressive facial deformity. In rare cases patients may develop vision and/or hearing loss due to compromise of the optic nerves and/or auditory canals, which is more common in patients with McCune-Albright syndrome associated growth hormone excess. Fibrous dysplasia commonly involves the spine, and may lead to scoliosis, which in rare instances may be severe. Untreated, progressive scoliosis is one of the few features of fibrous dysplasia that can lead to early fatality.
Bone pain is a common complication of fibrous dysplasia. It may present at any age, but most commonly develops during adolescence and progresses into adulthood.
Bone marrow stromal cells in fibrous dysplasia produce excess amounts of the phosphate-regulating hormone fibroblast growth factor-23 (FGF23), leading to loss of phosphate in the urine. Patients with hypophosphatemia may develop rickets/osteomalacia, increased fractures, and bone pain.
In the normal anatomy of the hip joint, the root (the thigh bone) is connected to the pelvis at the hip joint. The almost spherical end of the femur head (the caput, or caput ossis femoris) fits into the acetabulum (a concave socket located in the pelvis). The bony surfaces of the femur head and of the acetabulum are covered by cartilage. While bones provide the strength necessary to support body weight, cartilage ensures a smooth fit and a wide range of motion. Normal hip function can be affected by congenital conditions such as dysplasia, discussed in this article, trauma, and by acquired diseases such as osteoarthritis and rheumatoid arthritis.
Disproportionate short stature, deformity of the lower limbs, short fingers, and
ligamentous laxity give pseudoachondroplasia its distinctive features. The average height of adult males with the condition is around 120 centimeters (3 ft, 11 in), while adult females are typically around 116 cm (3ft, 9in). Affected individuals are not noticeably short at birth. Patients with pseudoachondroplasia present with gait abnormalities, lower limb deformity, or a retarded growth rate that characteristically appear at age 2-3 years. Disproportionate short stature is characterized by shortening of proximal limb segments (humeri and femora) also called rhizomelic shortening. Other known clinical features include, genu valgum/varum, brachydactyly (short fingers), supple flexion deformity of the hips, knees, hyperlordosis of lumbar spine, rocker bottom feet and broadening of the metaphyseal ends of long bones especially around the wrists, knees and ankles. Patients with pseudoachondroplasia have normal intelligence and craniofacial features, “Figure 1”, “Figure 2”, “Figure 3”.
Individuals affected by ischiopatellar dysplasia commonly have abnormalities of the patella and pelvic girdle, such as absent or delayed patellar and ischial ossification as well as infra-acetabular axe-cut notches. Patellae are typically absent or small in these individuals, when patellae are present they are small and laterally displaced or dislocated. In addition, abnormalities in other parts of their skeleton and dysmorphic features are common in those affected. Other features that have been identified in patients with ischiopatellar dysplasia include foot anomalies, specifically flat feet (pes planus), syndactylism of the toes, short fourth and fifth toes, and a large gap between the first and second toes, femur anomalies, cleft palate, and craniofacial dysmorphisms.
Failure to treat a SCFE may lead to: death of bone tissue in the femoral head (avascular necrosis), degenerative hip disease (hip osteoarthritis), gait abnormalities and chronic pain. SCFE is associated with a greater risk of arthritis of the hip joint later in life. 17-47 percent of acute cases of SCFE lead to the death of bone tissue (osteonecrosis) effects.
In osteochondritis dissecans, fragments of cartilage or bone become loose within a joint, leading to pain and inflammation. These fragments are sometimes referred to as joint mice. OCD is a type of osteochondrosis in which a lesion has formed within the cartilage layer itself, giving rise to secondary inflammation. OCD most commonly affects the knee, although it can affect other joints such as the ankle or the elbow.
People with OCD report activity-related pain that develops gradually. Individual complaints usually consist of mechanical symptoms including pain, swelling, catching, locking, popping noises, and buckling / giving way; the primary presenting symptom may be a restriction in the range of movement. Symptoms typically present within the initial weeks of stage I; however, the onset of stage II occurs within months and offers little time for diagnosis. The disease progresses rapidly beyond stage II, as OCD lesions quickly move from stable cysts or fissures to unstable fragments. Non-specific symptoms, caused by similar injuries such as sprains and strains, can delay a definitive diagnosis.
Physical examination typically reveals fluid in the joint, tenderness, and crepitus. The tenderness may initially spread, but often reverts to a well-defined focal point as the lesion progresses. Just as OCD shares symptoms with common maladies, acute osteochondral fracture has a similar presentation with tenderness in the affected joint, but is usually associated with a fatty hemarthrosis. Although there is no significant pathologic gait or characteristic alignment abnormality associated with OCD, the patient may walk with the involved leg externally rotated in an attempt to avoid tibial spine impingement on the lateral aspect of the medial condyle of the femur.
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.
Common symptoms include hip, knee (hip pathology can refer pain to a normal knee), or groin pain, exacerbated by hip or leg movement, especially internal hip rotation (with the knee flexed 90°, twisting the lower leg away from the center of the body). The range of motion is reduced, particularly in abduction and internal rotation, and the patient presents with a limp. Pain is usually mild. Atrophy of thigh muscles may occur from disuse and an inequality of leg length. In some cases, some activity can cause severe irritation or inflammation of the damaged area, including standing, walking, running, kneeling, or stooping repeatedly for an extended period of time. In cases exhibiting severe femoral osteonecrosis, pain is usually a chronic, throbbing sensation exacerbated by activity.
The first signs are complaints of soreness from the child, which are often dismissed as growing pains, and limping or other guarding of the joint, particularly when tired. The pain is usually in the hip, but can also be felt in the knee (referred pain). In some cases, pain is felt in the unaffected hip and leg, due to the children favoring their injured side and placing the majority of their weight on their "good" leg. It is predominantly a disease of boys (4:1 ratio). Perthes is generally diagnosed between 5 and 12 years of age, although it has been diagnosed as early as 18 months. Typically, the disease is only seen in one hip, but bilateral Perthes is seen in about 10% of children diagnosed.
In traumatic heterotopic ossification (traumatic myositis ossificans), the patient may complain of a warm, tender, firm swelling in a muscle and decreased range of motion in the joint served by the muscle involved. There is often a history of a blow or other trauma to the area a few weeks to a few months earlier. Patients with traumatic neurological injuries, severe neurologic disorders or severe burns who develop heterotopic ossification experience limitation of motion in the areas affected.
Heterotopic ossification (HO) is the process by which bone tissue forms outside of the skeleton.
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 spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. This type of dwarfism is characterized by a normal spinal column length relative to the femur bone. Adult height ranges from 0.9 meters (35 inches) to just over 1.4 meters (55 inches). Curvature of the spine (kyphoscoliosis and lordosis) progresses during childhood and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot). Decreased joint mobility and arthritis often develop early in life. Medical texts often state a mild and variable change to facial features, including cheekbones close to the nose appearing flattened, although this appears to be unfounded. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) is sometimes present, as are other eye problems that can affect vision such as detached retinas. About one-quarter of people with this condition have mild to moderate hearing loss.
The classic clinical presentation of a hip fracture is an elderly patient who sustained a low-energy fall and now has groin pain and is unable to bear weight. Pain may be referred to the supracondylar knee. On examination, the affected extremity is often shortened and unnaturally, externally rotated compared to the unaffected leg.
Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective.