Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
A cubitus varus deformity is more cosmetic than limiting of any function, however internal rotation of the radius over the ulna may be limited due to the overgrowth of the humerus. This may be noticeable during an activity such as using a computer mouse.
A common cause is the supracondylar fracture of humerus. It can be corrected via a corrective osteotomy of the humerus and either internal or external fixation of the bone until union.
Leri-Weill dyschondrosteosis is a pseudoautosomal dominant disorder which occurs more frequently in females and is due to a mutation, deletion or duplication of the SHOX gene. The SHOX gene plays a particularly important role in the growth and maturation of bones in the arms and legs. The SHOX gene is located within band Xp22.3 of the pseudoautosomal region of the X chromosome, which escapes X-inactivation. Homozygous SHOX gene mutations result in Langer mesomelic dysplasia.
It is a congenital subluxation or dislocation of the ulna's distal end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the distal end of the radius with upward displacement of the distal fragment. The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked radial deviation of the hand. Severe deformities are associated with congenital absence or hypoplasia of the radius.
The male:female rate of this disorder is 1:4. The incidence is unknown, and there is no described racial predominance. Even though Madelung's Deformity is considered a congenital disorder, symptoms sometimes aren't seen until adulthood. In most cases, symptoms find their onset during midchildhood. At this age, the relatively slower growth of the ulnar and palmar part of the radius, leads to an increasingly progressive deformity. Pain and deformity are the main symptoms patients present with. Typical clinical presentation consists of a short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm. As mentioned before, the severity of the disorder varies greatly, which also leads to a spectrum of presentation.
The exact cause is unclear. Proposed factors include wearing overly tight shoes, family history, and rheumatoid arthritis. Some state that footwear only worsens a problem caused by genetics.
Distal radius fractures are the most common fractures seen in adults, with incidence in females outnumbering incidence in males by a factor of 2-3. Men who sustain distal radius fractures are usually younger, generally in their fifth decade (vs. seventh decade in females). The elderly are more susceptible because of the osteopenia and osteoporosis commonly seen in this age group. The majority of these fractures are extra-articular (i.e. not involving the joint).
This is also a common injury in children which may involve the growth plate (Salter-Harris fracture).
In young adults, the injury is often severe as a greater force is necessary to produce the injury.
In most cases persisting after childhood, there is little or no effect on the ability to walk. Due to uneven stress and wear on the knees, however, even milder manifestations can see an accelerated onset of arthritis.
The following factors may be involved in causing this deformity:
- Inherent laxity of the knee ligaments
- Weakness of biceps femoris muscle
- Instability of the knee joint due to ligaments and joint capsule injuries
- Inappropriate alignment of the tibia and femur
- Malunion of the bones around the knee
- Weakness in the hip extensor muscles
- Gastrocnemius muscle weakness (in standing position)
- Upper motor neuron lesion (for example, hemiplegia as the result of a cerebrovascular accident)
- Lower motor neuron lesion (for example, in post-polio syndrome)
- Deficit in joint proprioception
- Lower limb length discrepancy
- Congenital genu recurvatum
- Cerebral palsy
- Multiple sclerosis
- Muscular dystrophy
- Limited dorsiflexion (plantar flexion contracture)
- Popliteus muscle weakness
- Connective tissue disorders. In these disorders, there are excessive joint mobility (joint hypermobility) problems. These disorders include:
- Marfan syndrome
- Ehlers-Danlos syndrome
- Benign hypermobile joint syndrome
- Osteogenesis imperfecta disease
Colles fractures occur in all age groups, although certain patterns follow an age distribution.
- In the elderly, because of the weaker cortex, the fracture is more often extra-articular.
- Younger individuals tend to require a higher energy force to cause the fracture and tend to have more complex intra-articular fractures. In children with open epiphyses, an equivalent fracture is the "epiphyseal slip", as can be seen in other joints, such as a slipped capital femoral epiphysis in the hip. This is a Salter I or II fracture with the deforming forces directed through the weaker epiphyseal plate.
- More common in women because of post-menopausal osteoporosis.
Accidental or deliberate physical trauma may result in either a fracture, muscle bruising, or a contusion. It is the leading cause of a limp. Deliberate abuse is important to consider.
If a child is sickly, either with rickets or any other ailment that prevents ossification of the bones, or is improperly fed, the bowed condition may persist. Thus the chief cause of this deformity is rickets. Skeletal problems, infection, and tumors can also affect the growth of the leg, sometimes giving rise to a one-sided bow-leggedness. The remaining causes are occupational, especially among jockeys, and from physical trauma, the condition being very likely to supervene after accidents involving the condyles of the femur.
It is unclear whether the cause of the trigger thumb is congenital or acquired. The occurrence of bilateral incidence and trigger thumbs in both children of twins are an indication for a congenital cause. Trigger thumb in children is also associated with trisomy of chromosome 13. For these reasons it was assumed that trigger thumbs in children are to be of congenital cause. However, more and more evidence which point towards an acquired cause have been found in recent studies. Therefore the name pediatric trigger thumb is also widely used (and currently preferred by some) for the same disorder.
In children the outcome of distal radius fracture treatment in casts is usually very successful with healing and return to normal function expected. Some residual deformity is common but this often remodels as the child grows. In the elderly, distal radius fractures heal and may result in adequate function following non-operative treatment. A large proportion of these fractures occur in elderly people that may have less requirement for strenuous use of their wrists. Some of these patients tolerate severe deformities and minor loss of wrist motion very well even without reduction of the fracture. In this low demand group only a short period of immobilization is indicated as rapid mobilization improves functional outcome.
In younger patients the injury requires greater force and results in more displacement particularly to the articular surface. Unless an accurate reduction of the joint surface is obtained, these patients are very likely to have long term symptoms of pain, arthritis, and stiffness.
Presence at birth is extremely rare and associated with other congenital anomalies such as proximal femoral focal deficiency, fibular hemimelia or anomalies in other part of the body such as cleidocranial dyastosis. The femoral deformity is present in the subtrochantric area where the bone is bent. The cortices are thickened and may be associated with overlying skin dimples. External rotation of the femur with valgus deformity of knee may be noted. This condition does not resolve and requires surgical management. Surgical management includes valgus osteotomy to improve hip biomechanics and length and rotational osteotomy to correct retroversion and lengthening.
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.
Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. The deformity is commonly associated with other conditions, most notably Klippel-Feil syndrome, congenital scoliosis including cervical scoliosis, fused ribs, the presence of an omovertebral bone and spina bifida. The left shoulder is the most commonly affected shoulder but the condition can be bilateral, meaning that both shoulders are affected. About 75% of all observed cases are girls. Treatment includes surgery in early childhood and physical therapy. Surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder.
Swan neck deformity has many possible causes arising from the DIP, PIP, or even the MCP joints. In all cases, there is a stretching of the volar plate at the PIP joint to allow hyperextension, plus some damage to the attachment of the extensor tendon to the base of the distal phalanx that produces a hyperflexed mallet finger. Duck bill deformity is a similar condition affecting the thumb (which cannot have true swan neck deformity because it does not have enough joints).
The scapula is small and rotated so that its inferior edge points toward the spine. There is a high correlation between Sprengel's deformity and the Klippel-Feil syndrome. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as the omovertebral bone.
Other infections that classically lead to a limp include Lyme disease (a bacterial infection spread by a deer tick) and osteomyelitis (an infection of the bone).
The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family; however, this does not account for all cases. Maternal viral infections, embryonic trauma, teratogenic environmental exposures or vascular dysgenesis (failure of the embryo to form a satisfactory blood supply) between four and seven weeks gestation are considered possible causes.
In an experimental mouse model, change in the expression of a homeobox gene led to similar, but bilateral, fibular defects.
Swan neck deformity is a deformed position of the finger, in which the joint closest to the fingertip is permanently bent toward the palm while the nearest joint to the palm is bent away from it (DIP flexion with PIP hyperextension). It is commonly caused by injury or inflammatory conditions like rheumatoid arthritis or sometimes familial (congenital, like Ehlers-Danlos syndrome).
The most important factors of knee stability include:
- Ligaments of the knee: The knee joint is stabilized by four main ligaments:
- Anterior cruciate ligament (ACL). The ACL has an important role in stabilization of knee extension movement by preventing the knee from hyperextending.
- Posterior cruciate ligament (PCL)
- Medial collateral ligament (MCL)
- Lateral collateral ligament (LCL)
- Joint capsule or articular capsule (especially posterior knee capsule)
- Quadriceps femoris muscle
- Appropriate alignment of the femur and tibia (especially in knee extension position )
FAI has been speculated as a cause of premature hip osteoarthritis and is characterized by abnormal contact between the proximal femur and rim of the acetabulum (hip socket). In most cases, patients present with a deformity in the femoral head, or acetabulum, a poorly positioned femoral-acetabular junction, or any or all of the foregoing. A combination of certain factors may predispose to some form of FAI, predominantly, a marginal developmental hip abnormality together with environmental factors such as activities involving recurrent motion of the legs within a supraphysiologic range.
Three types of FAI are recognized. The first involves an excess of bone along the upper surface of the femoral head, known as a Cam deformity (abbreviation for camshaft which the shape of the femoral head and neck resembles). The second is due to an excess of growth of the upper lip of the acetabular cup and is known as a 'Pincer' deformity. Colloquially, these are referred to as 'Cam' and 'Pincer'. The third is a combination of the two, generally referred to as 'Mixed'. Studies have suggested that 'Cam' deformities are more common in the male, while 'Pincer' deformities are more common in females. However, the most common situation, approximately 70%, is a combination of both. A complicating issue is that some of the radiographic findings of FAI have also been described in asymptomatic subjects. Consequently, the true frequency of femoroacetabular impingement is currently under debate, but the ultimate result is increased friction between the acetabular cup and femoral head which may result in pain and loss or reduction of hip function.
The cause is not currently known, and the condition appears to be multifactorial. Several candidate genes (such as FBN1, which has been associated with Marfan) have been proposed and excluded.
Higher numbers indicate a more severe problem and greater likelihood of a poor final outcome.