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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
Genu recurvatum is a deformity in the knee joint, so that the knee bends backwards. In this deformity, excessive extension occurs in the tibiofemoral joint. Genu recurvatum is also called knee hyperextension and back knee. This deformity is more common in women and people with familial ligamentous laxity. Hyperextension of the knee may be mild, moderate or severe.
The normal range of motion (ROM) of the knee joint is from 0 to 135 degrees in an adult. Full knee extension should be no more than 10 degrees. In genu recurvatum (back knee), normal extension is increased. The development of genu recurvatum may lead to knee pain and knee osteoarthritis.
The onset of the condition is usually gradual, although some cases may appear suddenly following trauma.
- Knee pain - the most common symptom is diffuse peripatellar pain (vague pain around the kneecap) and localized retropatellar pain (pain focused behind the kneecap). Affected individuals typically have difficulty describing the location of the pain, and may place their hands over the anterior patella or describe a circle around the patella (the "circle sign"). Pain is usually initiated when load is put on the knee extensor mechanism, e.g. ascending or descending stairs or slopes, squatting, kneeling, cycling, running or prolonged sitting with flexed (bent) knees. The latter feature is sometimes termed the "movie sign" or "theatre sign" because individuals might experience pain while sitting to watch a film or similar activity. The pain is typically aching with occasional sharp pains.
- Crepitus (joint noises) may be present
- Giving-way of the knee may be reported
Genu valgum, commonly called "knock-knee", is a condition in which the knees angle in and touch each other when the legs are straightened. Individuals with severe valgus deformities are typically unable to touch their feet together while simultaneously straightening the legs. The term originates from the Latin "genu", "knee", and "valgus" which actually means bent outwards, but in this case, it is used to describe the distal portion of the knee joint which bends outwards and thus the proximal portion seems to be bent inwards. For citation and more information on uses of the words Valgus and Varus, please visit the internal link to -varus.
Mild genu valgum is diagnosed when a person standing upright with the feet touching also shows the knees touching. It can be seen in children from ages 2 to 5, and is often corrected naturally as children grow. However, the condition may continue or worsen with age, particularly when it is the result of a disease, such as rickets or obesity. Idiopathic genu valgum is a form that is either congenital or has no known cause.
Other systemic conditions may be associated, such as Schnyder crystalline corneal dystrophy, an autosomal dominant condition frequently reported with hyperlipidemia.
The degree of genu valgum can be estimated by the , which is the angle formed by a line drawn from the anterior superior iliac spine through the center of the patella and a line drawn from the center of the patella to the center of the tibial tubercle. In women, the Q angle should be less than 22 degrees with the knee in extension and less than 9 degrees with the knee in 90 degrees of flexion. In men, the Q angle should be less than 18 degrees with the knee in extension and less than 8 degrees with the knee in 90 degrees of flexion. A typical Q angle is 12 degrees for men and 17 degrees for women.
Patients often complain of pain and swelling over the medial aspect of the knee joint. They may also report instability with side-to-side movement and during athletic performance that involves cutting or pivoting.
Chondromalacia patellae is a term sometimes treated synonymously with PFPS. However, there is general consensus that PFPS applies only to individuals without cartilage damage, thereby distinguishing it from chondromalacia patellae, a condition characterized by softening of the patellar articular cartilage. Despite this academic distinction, the diagnosis of PFPS is typically made clinically, based only on the history and physical examination rather than on the results of any medical imaging. Therefore, it is unknown whether most persons with a diagnosis of PFPS have cartilage damage or not, making the difference between PFPS and chondromalacia theoretical rather than practical. It is thought that only some individuals with anterior knee pain will have true chondromalacia patellae.
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.
Children until the age of 3 to 4 have a degree of Genu Varum. The child sits with the soles of the feet facing one another; the tibia and femur are curved outwards; and, if the limbs are extended, although the ankles are in contact, there is a distinct space between the knee-joints. During the first year of life, a gradual change takes place. The knee-joints approach one another; the femur slopes downward and inward towards the knee joints; the tibia become straight; and the sole of the foot faces almost directly downwards.
While these changes are occurring, the bones, which at first consist principally of cartilage, are gradually becoming ossified. By the time a normal child begins to walk, the lower limbs are prepared, both by their general direction and by the rigidity of the bones which form them, to support the weight of the body.
Patients often complain of pain and instability at the joint. With concurrent nerve injuries, patients may experience numbness, tingling and weakness of the ankle dorsiflexors and great toe extensors, or a footdrop.
Jacobson previously described the common problems to medial knee surgery. It was stressed that adequate diagnosis is imperative and all possible injuries should be evaluated and addressed intraoperatively. Damage to the saphenous nerve and its infrapatellar branch is possible during medial knee surgery, potentially causing numbness or pain over the medial knee and leg. As with all surgeries, there is a risk of bleeding, wound problems, deep vein thrombosis, and infection that can complicate the outcome and rehabilitation process. The long term complication of arthrofibrosis and heterotopic ossification (Pellegrini-Stieda syndrome) are problems that are best addressed with early range of motion and following defined rehabilitation protocols. Failure of graft due to intrinsic mechanical forces should be prevented with preoperative alignment assessment (osteotomy treatment) and proper rehabilitation.
Common deformities of the knee include:
- Genu varum
- Genu valgum
- Genu recurvatum (Knee hyperextension)
- Knee flexion deformity
- Bipartite patella
Follow-up studies by Levy et al. and Stannard at al. both examined failure rates for posterolateral corner repairs and reconstructions. Failure rates repairs were approximately 37 – 41% while reconstructions had a failure rate of 9%.
Other less common surgical complications include deep vein thrombosis (DVTs), infection, blood loss, and nerve/artery damage. The best way to avoid these complications is to preemptively treat them. DVTs are typically treated prophylactically with either aspirin or sequential compression devices (SCDs). In high risk patients there may be a need for prophylactic administration of low molecular weight heparin (LMWH). In addition, having a patient get out of bed and ambulate soon after surgery is a time honored way to prevent DVTs. Infection is typically controlled by administering 1 gram of the antibiotic cefazolin (Ancef) prior to surgery. Excessive blood loss and nerve/artery damage are rare occurrences in surgery and can usually be avoided with proper technique and diligence; however, the patient should be warned of these potential complications, especially in patients with severe injuries and scarring.
Referred pain is that pain perceived at a site different from its point of origin but innervated by the same spinal segment. Sometimes knee pain may be related to another area from body. For example, knee pain can come from ankle, foot, hip joints or lumbar spine.
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.
The clinical features of this condition include
- Flattened facial features
- Flexion contractures of the interphalangeal joints of hand and foot.
- Limited motion of multiple joints
- Short broad metacarpals, metatarsals and phalanges
Thickening of the skin may occur in a fashion similar to that occurs in scleroderma. The thumbs may be angled in a lateral direction (valgus deformity). The knees may be angled backwards (genu recurvatum). Abnormalities of the upper spinal cord may also occur.
Although hyperlordosis gives an impression of a stronger back, incongruently it can lead to moderate to severe lower back pain. The most problematic symptom is that of herniated disc where the dancer has put so much strain on their back that the discs between the vertebrae have been damaged or have ruptured. Technical problems with dancing such as difficulty in the positions of attitude and arabesque can be a sign of weak iliopsoas. Tightness of the iliopsoas results in a dancer having difficulty lifting their leg into high positions. Abdominal muscles being weak and the rectus femoris of the quadriceps being tight are signs that improper muscles are being worked while dancing which leads to lumbar hyperlordosis. The most obvious signs of lumbar hyperlordosis is lower back pain in dancing and pedestrian activities as well as having the appearance of a swayed back.
Lumbar hyperlordosis is a condition that occurs when the lumbar region (lower back) experiences stress or extra weight and is arched to point of muscle pain or spasms. Lumbar hyperlordosis is a common postural position where the natural curve of the lumbar region of the back is slightly or dramatically accentuated. Commonly known as swayback, it is common in dancers. Imbalances in muscle strength and length are also a cause, such as weak hamstrings, or tight hip flexors (psoas). A major feature of lumbar hyperlordosis is a forward pelvic tilt, resulting in the pelvis resting on top of the thighs.
Other health conditions and disorders can cause hyperlordosis. Achondroplasia (a disorder where bones grow abnormally which can result in short stature as in dwarfism), Spondylolisthesis (a condition in which vertebrae slip forward) and osteoporosis (the most common bone disease in which bone density is lost resulting in bone weakness and increased likelihood of fracture) are some of the most common causes of hyperlordosis. Other causes include obesity, hyperkyphosis (spine curvature disorder in which the thoracic curvature is abnormally rounded), discitits (an inflammation of the intervertebral disc space caused by infection) and benign juvenile lordosis. Other factors may also include those with rare diseases, as is the case with Ehlers Danlos Syndrome (EDS), where hyper-extensive and usually unstable joints (e.g. joints that are problematically much more flexible, frequently to the point of partial or full dislocation) are quite common throughout the body. With such hyper-extensibility, it is also quite common (if not the norm) to find the muscles surrounding the joints to be a major source of compensation when such instability exists.
Excessive lordotic curvature – lumbar hyperlordosis, is also called hollow back, and saddle back (after a similar condition that affects some horses); swayback usually refers to a nearly opposite postural misalignment that can initially look quite similar. Common causes of lumbar hyperlordosis include tight low back muscles, excessive visceral fat, and pregnancy. Rickets, a vitamin D deficiency in children, can cause lumbar lordosis.
Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921.
It is an autosomal recessive disorder in which mild clinical manifestations contrast with radiological appearances of gross metaphyseal undermodeling. Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common. Patients may present with dental caries, mandibular prognathism, spinal alignment, and disproportionate limb lengthening. Mental development, physical development, and height are usually normal.
Pyle disease may be confused with craniometaphyseal dysplasia. The two, however, are clinically, radiographically, and genetically distinct from one another.
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.
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”.
Accurate assessment of plain radiographic findings remains an important contributor to diagnosis of pseudoachondroplasia. It is noteworthy that vertebral radiographic abnormalities tend to resolve over time. Epiphyseal abnormalities tend to run a progressive course. Patients usually suffer early-onset arthritis of hips and knees. Many unique skeletal radiographic abnormalities of patients with pseudoachondroplasia have been reported in the literature.
- Together with rhizomelic limb shortening, the presence of epiphyseal-metaphyseal changes of the long bones is a distinctive radiologic feature of pseudoachondroplasia.
- Hypoplastic capital femoral epiphyses, broad short femoral necks, coxa vara, horizontality of acetabular roof and delayed eruption of secondary ossification center of os pubis and greater trochanter.
- Dysplastic/hypoplastic epiphyses especially of shoulders and around the knees.
- Metaphyseal broadening, irregularity and metaphyseal line of ossification. These abnormalities that are typically encountered in proximal humerus and around the knees are collectively known as “rachitic-like changes”.
- Radiographic lesions of the appendicular skeleton are typically bilateral and symmetric.
- Oval shaped vertebrae with anterior beak originating and platyspondyly demonstrated on lateral radiographs of the spine.
- Normal widening of the interpedicular distances caudally demonstrated on anteroposterior radiographs of the dorsolumbar region. This is an important differentiating feature between pseudoachondroplasia and achondroplasia.
- Odontoid hypoplasia may occur resulting in cervical instability.
Individuals with distal 18q- may have problems with reflux. Hernias have also been reported.