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Most countries have standard newborn exams that include a hip joint exam screening for early detection of hip dysplasia.
Sometimes during an exam a "click" or more precisely "clunk" in the hip may be detected (although not all clicks indicate hip dysplasia). When a hip click (also known as "clicky hips" in the UK) is detected, the child's hips are tracked with additional screenings to determine if developmental dysplasia of the hip is caused.
Two maneuvers commonly employed for diagnosis in neonatal exams are the Ortolani maneuver and the Barlow maneuver.
In order to do the Ortolani maneuver it is recommended that the examiner put the newborn baby in a position in which the contralateral hip is held still while the thigh of the hip being tested is abducted and gently pulled anteriorly. If a "clunk" is heard (the sound of the femoral head moving over the acetabulum), the joint is normal, but absence of the "clunk" sound indicates that the acetabulum is not fully developed. The next method that can be used is called the Barlow maneuver. It is done by adducting the hip while pushing the thigh posteriorly. If the hip goes out of the socket it means it is dislocated, and the newborn has a congenital hip dislocation. The baby is laid on its back for examination by separation of its legs. If a clicking sound can be heard, it indicates that the baby may have a dislocated hip. It is highly recommended that these maneuvers be done when the baby is not fussing, because the baby may inhibit hip movement.
The condition can be confirmed by ultrasound and X-ray. Ultrasound imaging yields better results defining the anatomy until the cartilage is ossified. When the infant is around 3 months old a clear roentgenographic image can be achieved. Unfortunately the time the joint gives a good x-ray image is also the point at which nonsurgical treatment methods cease to give good results. In x-ray imaging dislocation may be indicated if the Shenton's line (an arc drawn from the medial aspect of the femoral neck through the superior margin of the obturator foramen) does not result in a smooth arc. However, in infants this line can be unreliable as it depends on the rotation of the hip when the image is taken ()
Asymmetrical gluteal folds and an apparent limb-length inequality can further indicate unilateral hip dysplasia. Most vexingly, many newborn hips show a certain ligamentous laxity, on the other hand severely malformed joints can appear stable. That is one reason why follow-up exams and developmental monitoring are important. Frequency and methods of routine screenings in children is still in debate however physical examination of newborns followed by appropriate use of hip ultrasound is widely accepted.
The Harris hip score (developed by William H. Harris MD, an orthopedist from Massachusetts) is one way to evaluate hip function following surgery. Other scoring methods are based on patients' evaluation like e.g. the Oxford hip score, HOOS and WOMAC score. Children's Hospital Oakland Hip Evaluation Scale (CHOHES) is a modification of the Harris hip score that is currently being evaluated.
Hip dysplasia can develop in older age. Adolescents and adults with hip dysplasia may present with hip pain and in some cases hip labral tears. X-rays are used to confirm a diagnosis of hip dysplasia. CT scans and MRI scans are occasionally used too.
Some sources prefer "developmental dysplasia of the hip" (DDH) to "congenital dislocation of the hip" (CDH), finding the latter term insufficiently flexible in describing the diversity of potential complications.
The use of the word congenital can also imply that the condition already exists at birth. This terminology introduces challenges, because the joint in a newborn is formed from cartilage and is still malleable, making the onset difficult to ascertain.
The newer term DDH also encompasses occult dysplasia (e.g. an underdeveloped joint) without dislocation and a dislocation developing after the "newborn" phase.
The term is not used consistently. In pediatric/neonatal orthopedics it is used to describe unstable/dislocatable hips and poorly developed acetabula. For adults it describes hips showing abnormal femur head or acetabular x-rays.
Some sources prefer the term "hip dysplasia" over DDH, considering it to be "simpler and more accurate", partly because of the redundancy created by the use of the terms developmental and dysplasia. Types of DDH include subluxation, dysplasia, and dislocation. The main types are the result of either laxity of the supporting capsule or an abnormal acetabulum.
Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes.
May also be suspected by ultrasound during the second trimester of gestation.
There is no known cure. In selected patients orthopaedic surgery may be helpful to try to gain some functionality of severely impaired joints.
Ultrasound remains as one of the only effective ways of prenatally diagnosing Larsen syndrome. Prenatal diagnosis is extremely important, as it can help families prepare for the arrival of an infant with several defects. Ultrasound can capture prenatal images of multiple joint dislocations, abnormal positioning of legs and knees, depressed nasal bridge, prominent forehead, and club feet. These symptoms are all associated with Larsen syndrome, so they can be used to confirm that a fetus has the disorder.
Depending on the severity of the deformities, the treatment may include the amputation of the foot or part of the leg, lengthening of the femur, extension prosthesis, or custom shoe lifts. Amputation usually requires the use of prosthesis. Another alternative is a rotationplasty procedure, also known as Van Ness surgery. In this situation the foot and ankle are surgically removed, then attached to the femur. This creates a functional "knee joint". This allows the patient to be fit with a below knee prosthesis vs a traditional above knee prosthesis.
In less severe cases, the use of an Ilizarov apparatus can be successful in conjunction with hip and knee surgeries (depending on the status of the femoral head/kneecap) to extend the femur length to normal ranges. This method of treatment can be problematic in that the Ilizarov might need to be applied both during early childhood (to keep the femur from being extremely short at the onset of growth) and after puberty (to match leg lengths after growth has ended). The clear benefit of this approach, however, is that no prosthetics are needed and at the conclusion of surgical procedures the patient will not be biologically or anatomically different from a person born without PFFD.
The diagnosis is usually initially made by a combination of physical exam and MRI of the shoulder, which can be done with or without the injection of intraarticular contrast. The presence of contrast allows for better evaluation of the glenoid labrum.
The decisions involved in the repair of the Hill–Sachs lesion are complex. First, it is not repaired simply because of its existence, but because of its association with continuing symptoms and instability. This may be of greatest importance in the under-25-year-old and in the athlete involved in throwing activities. The Hill-Sachs role in continuing symptoms, in turn, may be related to its size and large lesions, particularly if involving greater than 20% of the articular surface, may impinge on the glenoid fossa (engage), promoting further episodes of instability or even dislocation. Also, it is a fracture, and associated bony lesions or fractures may coexist in the glenoid, such as the so-called bony Bankart lesion. Consequently, its operative treatment may include some form of bony augmentation, such as the Latarjet or similar procedure. Finally, there is no guarantee that associated non-bony lesions, such as a Bankart lesion, SLAP tear, or biceps tendon injury, may not be present and require intervention.
It is sometimes possible to correct the problem with surgery, though this has high failure rates for treatment of post-traumatic radioulnar synostosis.
Imaging diagnosis conventionally begins with plain film radiography. Generally, AP radiographs of the shoulder with the arm in internal rotation offer the best yield while axillary views and AP radiographs with external rotation tend to obscure the defect. However, pain and tenderness in the injured joint make appropriate positioning difficult and in a recent study of plain film x-ray for Hill–Sachs lesions, the sensitivity was only about 20%. i.e. the finding was not visible on plain film x-ray about 80% of the time.
By contrast, studies have shown the value of ultrasonography in diagnosing Hill–Sachs lesions. In a population with recurrent dislocation using findings at surgery as the gold standard, a sensitivity of 96% was demonstrated. In a second study of patients with continuing shoulder instability after trauma, and using double contrast CT as a gold standard, a sensitivity of over 95% was demonstrated for ultrasound. It should be borne in mind that in both those studies, patients were having continuing problems after initial injury, and therefore the presence of a Hill–Sachs lesion was more likely. Nevertheless, ultrasonography, which is noninvasive and free from radiation, offers important advantages.
MRI has also been shown to be highly reliable for the diagnosis of Hill-Sachs (and Bankart) lesions. One study used challenging methodology. First of all, it applied to those patients with a single, or first time, dislocation. Such lesions were likely to be smaller and therefore more difficult to detect. Second, two radiologists, who were blinded to the surgical outcome, reviewed the MRI findings, while two orthopedic surgeons, who were blinded to the MRI findings, reviewed videotapes of the arthroscopic procedures. Coefficiency of agreement was then calculated for the MRI and arthroscopic findings and there was total agreement ( kappa = 1.0) for Hill-Sachs and Bankart lesions.
A bone fracture may be diagnosed based on the history given and the physical examination performed. Radiographic imaging often is performed to confirm the diagnosis. Under certain circumstances, radiographic examination of the nearby joints is indicated in order to exclude dislocations and fracture-dislocations. In situations where projectional radiography alone is insufficient, Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) may be indicated.
Treatment consist of a long leg orthopedic cast for several weeks.
Arthroscopic repair of Bankart injuries have high success rates, with studies showing that nearly one-third of patients require re-intervention for continued shoulder instability following repair. Options for repair include an arthroscopic technique or a more invasive open Latarjet procedure, with the open technique tending to have a lower incidence of recurrent dislocation, but also a reduced range of motion following surgery.
Even though clinical diagnostic criteria have not been 100 percent defined for genitopatellar syndrome, the researchers stated that the certain physical features could relate to KAT6B mutation and result in the molecular genetic testing. The researchers stated that the Individuals with two major features or one major feature and two minor features are likely to have a KAT6B mutation.
To diagnose the Genitopatellar Syndrome, there are multiple ways to evaluate.
Medical genetics consultation
- Evaluation by developmental specialist
- Feeding evaluation
- Baseline hearing evaluation
- Thyroid function tests
- Evaluation of males for cryptorchidism
- Orthopedic evaluation if contractures are present or feet/ankles are malpositioned
- Hip radiographs to evaluate for femoral head dislocation
- Renal ultrasound examination for hydronephrosis and cysts
- Echocardiogram for congenital heart defects
- Evaluation for laryngomalacia if respiratory issues are present
- Evaluation by gastroenterologist as needed, particularly if bowel malrotation is suspected
In the early stages, bone scintigraphy and MRI are the preferred diagnostic tools.
X-ray images of avascular necrosis in the early stages usually appear normal. In later stages it appears relatively more radio-opaque due to the nearby living bone becoming resorbed secondary to reactive hyperemia. The necrotic bone itself does not show increased radiographic opacity, as dead bone cannot undergo bone resorption which is carried out by living osteoclasts. Late radiographic signs also include a radiolucency area following the collapse of subchondral bone (crescent sign) and ringed regions of radiodensity resulting from saponification and calcification of marrow fat following medullary infarcts.
A variety of methods may be used to treat the most common being the total hip replacement (THR). However, THRs have a number of downsides including long recovery times and short life spans (of the hip joints). THRs are an effective means of treatment in the older population; however, in younger people they may wear out before the end of a person's life.
Other technicques such as metal on metal resurfacing may not be suitable in all cases of avascular necrosis; its suitability depends on how much damage has occurred to the femoral head. Bisphosphonates which reduces the rate of bone breakdown may prevent collapse (specifically of the hip) due to AVN.
Diagnosis is made on plain radiograph of the foot, although the extent of injury is often underestimated.
Treatment comprises early reduction of the dislocation, and frequently involves open reduction internal fixation to restore and stabilise the talonavicular joint. Open reduction and fusion of the calcaneocuboid joint is occasionally required.
First options for treatment are conservative, using hot or cold packs, rest and NSAID's at first. If no improvement is made, a splint or brace can be used to keep the deviated arm straight. When none of the conservative treatments work surgical intervention is designated.
Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the lesion and the extent of bony involvement. However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.
With prompt treatment, particularly open reduction, and early mobilisation the outcome is generally good. High energy injuries and associated fractures worsen the outcome.
The proposed mechanism involves shear stress and lack of displacement due to the periosteum that is relatively strong compared to the elastic bone in young children.
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.
Treatment for Larsen syndrome varies according to the symptoms of the individual. Orthopedic surgery can be performed to correct the serious joint defects associated with Larsen syndrome. Reconstructive surgery can be used to treat the facial abnormalities. Cervical kyphosis can be very dangerous to an individual because it can cause the vertebrae to disturb the spinal cord. Posterior cervical arthrodesis has been performed on patients with cervical kyphosis, and the results have been successful Propranolol has been used to treat some of the cardiac defects associated with Marfan's syndrome, so the drug also has been suggested to treat cardiac defects associated with Larsen syndrome.
In children, the results of early treatment are always good, typically normal or nearly so. If diagnosis is delayed, reconstructive surgery is needed and complications are much more common and results poorer. In adults, the healing is slower and results usually not as good.
Complications of ORIF surgery for Monteggia fractures can include non-union, malunion, nerve palsy and damage, muscle damage, arthritis, tendonitis, infection, stiffness and loss of range of motion, compartment syndrome, audible popping or snapping, deformity, and chronic pain associated with surgical hardware such as pins, screws, and plates. Several surgeries may be needed to correct this type of fracture as it is almost always a very complex fracture that requires a skilled orthopedic surgeon, usually a 'specialist', familiar with this type of injury.
The lesion is associated with any damage to the antero-inferior labrum. Most commonly due to anterior shoulder dislocation. The lesion often occurs after the initial dislocation. In chronic cases there may be fibrosis and resynovialization of the labrum and periosteum.
The lesion is best identified on MR arthrography. Additional views in "ABER" (ABduction and External Rotation) of the shoulder aid in this diagnosis.
Differential diagnoses include:
- Bankart lesion
- Bankart lesion
- Alpsa lesion
- GLAD
- HAGL
- BHAGL
Treatment is surgical re-attachment of the labrum preferably via arthroscopy.