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Some studies suggest a hormonal link. Specifically, the hormone relaxin has been indicated.
A genetic factor is indicated since the trait runs in families and there is an increased occurrence in some ethnic populations (e.g., Native Americans, Lapps / Sami people). A locus has been described on chromosome 13. Beukes familial dysplasia, on the other hand, was found to map to an 11-cM region on chromosome 4q35, with nonpenetrant carriers not affected.
Hip dysplasia is considered to be a multifactorial condition. That means that several factors are involved in causing the condition to manifest.
The cause of this condition is unknown; however, some factors of congenital hip dislocation are through heredity and racial background. It is also thought that the higher rates in some ethnic groups (such as some Native American groups) is due to the practice swaddling of infants, which is known to be a potential risk factor for developing dysplasia. It also has a low risk in African Americans and southern Chinese.
It is sometimes possible to correct the problem with surgery, though this has high failure rates for treatment of post-traumatic radioulnar synostosis.
Post-traumatic cases are most likely to develop following surgery for a forearm fracture, this is more common with high-energy injuries where the bones are broken into many pieces (comminuted). It can also develop following soft tissue injury to the forearm where there is haematoma formation.
The cause of PFFD is uncertain. Two hypotheses have been advanced. The theory of sclerotome subtraction posits injury to neural crest cells that are the precursors to sensory nerves at the level of L4 and L5. Histologic studies of a fetus with unilateral PFFD have prompted an alternative hypothesis that PFFD is caused by a defect in maturation of chondrocytes (cartilage cells) at the growth plate. In either hypothesis, the agent causing the injury is usually not known. Thalidomide is known to cause PFFD when the mother is exposed to it in the fifth or sixth week of pregnancy, and it is speculated that exposure to other toxins during pregnancy may also be a cause. Other etiologies that have been suggested, but not proven, include anoxia, ischemia, radiation, infection, hormones, and mechanical force. PFFD occurs sporadically, and does not appear to be hereditary.
After an anterior shoulder dislocation, the risk of a future dislocation is about 20%. This risk is greater in males than females.
Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting in radial deviation of the wrist and shortening of the forearm. It can occur in different ways, from a minor anomaly to complete absence of the radius, radial side of the carpal bones and thumb. Hypoplasia of the distal humerus may be present as well and can lead to stiffnes of the elbow. Radial deviation of the wrist is caused by lack of support to the carpus, radial deviation may be reinforced if forearm muscles are functioning poorly or have abnormal insertions. Although radial longitudinal deficiency is often bilateral, the extent of involvement is most often asymmetric.
The incidence is between 1:30,000 and 1:100,000 and it is more often a sporadic mutation rather than an inherited condition. In case of an inherited condition, several syndromes are known for an association with radial dysplasia, such as the cardiovascular Holt-Oram syndrome, the gastrointestinal VATER syndrome and the hematologic Fanconi anemia and TAR syndrome. Other possible causes are an injury to the apical ectodermal ridge during upper limb development, intrauterine compression, or maternal drug use (thalidomide).
Supracondylar humerus fractures account for 55%-75% of all elbow fractures. They most commonly occur in children between ages 5–8, because remodeling of bone in this age group causes a decreased supracondylar anteroposterior diameter.
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.
Jaw dislocation is common for people who are in car, motorcycle or related accidents and also sports related activities. This injury does not pin point specific ages or genders because it could happen to anybody. People who dislocate their jaw do not usually seek emergency medical care. In most cases, jaw dislocations are acute and can be altered by minor manipulations. It was reported from one study that over a seven-year period at an emergency medical site, with 100,000 yearly visits, there were only 37 patients that were seen for a dislocated jaw.
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.
The etiology of the Galeazzi fracture is thought to be a fall that causes an axial load to be placed on a hyperpronated forearm. However, researchers have been unable to reproduce the mechanism of injury in a laboratory setting.
After the injury, the fracture is subject to deforming forces including those of the brachioradialis, pronator quadratus, and thumb extensors, as well as the weight of the hand. The deforming muscular and soft-tissue injuries that are associated with this fracture cannot be controlled with plaster immobilization.
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.
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.
Rate in the United States have been estimated to occur among an at-risk population of 1,774,210,081 people each year. Incidence rates published in the American Journal of Sports Medicine for ages 10–17 were found to be about 29 per 100,000 persons per year, while the adult population average for this type of injury ranged between 5.8 and 7.0 per 100,000 persons per year. The highest rates of patellar dislocation were found in the youngest age groups, while the rates declined with increasing ages. Females are more susceptible to patellar dislocation. Race is a significant factor for this injury, where Hispanics, African-Americans and Caucasians had slightly higher rates of patellar dislocation due to the types of athletic activity involved in: basketball (18.2%), soccer (6.9%), and football (6.9%), according to Brian Waterman.
Lateral Patellar dislocation is common among the child population. Some studies suggest that the annual patellar dislocation rate in children is 43/100,000. The treatment of the skeletally immature is controversial due to the fact that they are so young and are still growing. Surgery is recommended by some experts in order to repair the medial structures early, while others recommend treating it non operatively with physical therapy. If re-dislocation occurs then reconstruction of the medial patellofemoral ligament (MPFL) is the recommended surgical option.
Olecranon fractures are rare in children, constituting only 5 to 7% of all elbow fractures. This is because in early life, olecranon is thick, short and much stronger than the lower extremity of the humerus.
However, olecranon fractures are a common injury in adults. This is partly due to its exposed position on the point of the elbow.
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 incidence of Hill–Sachs lesion is not known with certainty. It has been reported to be present in 40% to 90% of patients presenting with anterior shoulder instability, that is subluxation or dislocation. In those who have recurrent events, it may be as high as 100%. Its presence is a specific sign of dislocation and can thus be used as an indicator that dislocation has occurred even if the joint has since regained its normal alignment. The average depth of Hill–Sachs lesion has been reported as 4.1 mm. Large, engaging Hill-Sachs fractures can contribute to shoulder instability and will often cause painful clicking, catching, or popping.
Classification of radial dysplasia is practised through different models. Some only include the different deformities or absences of the radius, where others also include anomalies of the thumb and carpal bones. The Bayne and Klug classification discriminates four different types of radial dysplasia. A fifth type was added by Goldfarb et al. describing a radial dysplasia with participation of the humerus. In this classification only anomalies of the radius and the humerus are taken in consideration. James and colleagues expanded this classification by including deficiencies of the carpal bones with a normal distal radius length as type 0 and isolated thumb anomalies as type N.
Type N: Isolated thumb anomaly
Type 0: Deficiency of the carpal bones
Type I: Short distal radius
Type II: Hypoplastic radius in miniature
Type III: Absent distal radius
Type IV: Complete absent radius
Type V: Complete absent radius and manifestations in the proximal humerus
The term absent radius can refer to the last 3 types.
Monteggia fractures may be managed conservatively in children with closed reduction (resetting and casting), but due to high risk of displacement causing malunion, open reduction internal fixation is typically performed.
Osteosynthesis (open reduction and internal fixation) of the ulnar shaft is considered the standard of care in adults. It promotes stability of the radial head dislocation and allows very early mobilisation to prevent stiffness. The elbow joint is particularly susceptible to loss of motion.
The Monteggia fracture is a fracture of the proximal third of the ulna with dislocation of the proximal head of the radius. It is named after Giovanni Battista Monteggia.
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.
Although the precise mechanism of injury is unclear, the injury occurs in children who have fallen heavily with their arm trapped under the body. In his original description of the injury, Hume suggested that the injury occurred as a result of hyperextension of the elbow leading to fracture of the olecranon, with pronation of the forearm leading to the radial head dislocation.
Most commonly due to anterior shoulder dislocation caused by hyperabduction and external rotation of the arm. Usually in young men who play contact sports (E.g. rugby, football, volleyball, basketball, etc.). Frequent anterior (frontward) subluxation also poses a great risk factor.
Galeazzi fractures account for 3-7% of all forearm fractures. They are seen most often in males. Although Galeazzi fracture patterns are reportedly uncommon, they are estimated to account for 7% of all forearm fractures in adults. They are associated with a fall on an outstretched arm.