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The diagnosis is a combination of clinical suspicion plus radiological investigation. Children with a SCFE experience a decrease in their range of motion, and are often unable to complete hip flexion or fully rotate the hip inward. 20-50% of SCFE are missed or misdiagnosed on their first presentation to a medical facility. SCFEs may be initially overlooked, because the first symptom is knee pain, referred from the hip. The knee is investigated and found to be normal.
The diagnosis requires x-rays of the pelvis, with anteriorposterior (AP) and frog-leg lateral views. The appearance of the head of the femur in relation to the shaft likens that of a "melting ice cream cone", visible with Klein's line. The severity of the disease can be measured using the Southwick angle.
Exact diagnosis remains widely built on precise history taking, with the characteristic clinical and radiographic skeletal features. Genetic diagnosis is based on DNA sequencing. Because plasma COMP levels are significantly reduced in patients with COMP mutations, such as pseudoachondroplasia, measuring plasma COMP levels has become a reliable means of diagnosing this and pathopysiologically similar disorders.
Diagnosis should be based on the clinical and radiographic findings and a genetic analysis can be assessed.
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.
The disease can be treated with external in-situ pinning or open reduction and pinning. Consultation with an orthopaedic surgeon is necessary to repair this problem. Pinning the unaffected side prophylactically is not recommended for most patients, but may be appropriate if a second SCFE is very likely.
Once SCFE is suspected, the patient should be non-weight bearing and remain on strict bed rest. In severe cases, after enough rest the patient may require physical therapy to regain strength and movement back to the leg. A SCFE is an orthopaedic emergency, as further slippage may result in occlusion of the blood supply and avascular necrosis (risk of 25 percent). Almost all cases require surgery, which usually involves the placement of one or two pins into the femoral head to prevent further slippage. The recommended screw placement is in the center of the epiphysis and perpendicular to the physis. Chances of a slippage occurring in the other hip are 20 percent within 18 months of diagnosis of the first slippage and consequently the opposite unaffected femur may also require pinning.
The risk of reducing this fracture includes the disruption of the blood supply to the bone. It has been shown in the past that attempts to correct the slippage by moving the head back into its correct position can cause the bone to die. Therefore the head of the femur is usually pinned 'as is'. A small incision is made in the outer side of the upper thigh and metal pins are placed through the femoral neck and into the head of the femur. A dressing covers the wound.
A Salter–Harris fracture is a fracture that involves the epiphyseal plate or growth plate of a bone. It is a common injury found in children, occurring in 15% of childhood long bone fractures.
Management depends on the severity of the fracture. An undisplaced fracture may be treated with a cast alone. The cast is applied with the distal fragment in palmar flexion and ulnar deviation. A fracture with mild angulation and displacement may require closed reduction. There is some evidence that immobilization with the wrist in dorsiflexion as opposed to palmarflexion results in less redisplacement and better functional status. Significant angulation and deformity may require an open reduction and internal fixation or external fixation. The volar forearm splint is best for temporary immobilization of forearm, wrist and hand fractures, including Colles fracture.
There are several established instability criteria:
dorsal tilt >20°,
comminuted fracture,
abruption of the ulnar styloid process,
intraarticular displacement >1mm,
loss of radial height >2mm.
A higher amount of instability criteria increases the likelihood of operative treatment.
Treatment modalities differ in the elderly.
Repeat Xrays are recommended at one, two, and six weeks to verify proper healing.
Diagnosis can be made upon interpretation of anteroposterior and lateral views alone.
The classic Colles fracture has the following characteristics:
- Transverse fracture of the radius
- 2.5 cm (0.98 inches) proximal to the radio-carpal joint
- dorsal displacement and dorsal angulation, together with radial tilt
Other characteristics:
- Radial shortening
- Loss of ulnar inclination≤
- Radial angulation of the wrist
- Comminution at the fracture site
- Associated fracture of the ulnar styloid process in more than 60% of cases.
A combination of medical tests are used to diagnosis kniest dysplasia. These tests can include:
- Computer Tomography Scan(CT scan) - This test uses multiple images taken at different angles to produce a cross-sectional image of the body.
- Magnetic Resonance Imaging (MRI) - This technique proves detailed images of the body by using magnetic fields and radio waves.
- EOS Imaging - EOS imaging provides information on how musculoskeletal system interacts with the joints. The 3D image is scanned while the patient is standing and allows the physician to view the natural, weight-bearing posture.
- X-rays - X-ray images will allow the physician to have a closer look on whether or not the bones are growing abnormally.
The images taken will help to identify any bone anomalies. Two key features to look for in a patient with kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae. Other features to look for include:
- Platyspondyly (flat vertebral bodies)
- Kyphoscoliosis (abnormal rounding of the back and lateral curvature of the spine)
- Abnormal growth of epiphyses, metaphyses, and diaphysis
- Short tubular bones
- Narrowed joint spaces
Genetic Testing - A genetic sample may be taken in order to closely look at the patient's DNA. Finding an error in the COL2A1 gene will help identify the condition as a type II chondroldysplasia.
There are nine types of Salter–Harris fractures; types I to V as described by Robert B Salter and W Robert Harris in 1963, and the rarer types VI to IX which have been added subsequently:
- Type I – transverse fracture through the growth plate (also referred to as the "physis"): 6% incidence
- Type II – A fracture through the growth plate and the metaphysis, sparing the epiphysis: 75% incidence, takes approximately 2–3 weeks or more in the spine to heal.
- Type III – A fracture through growth plate and epiphysis, sparing the metaphysis: 8% incidence
- Type IV – A fracture through all three elements of the bone, the growth plate, metaphysis, and epiphysis: 10% incidence
- Type V – A compression fracture of the growth plate (resulting in a decrease in the perceived space between the epiphysis and metaphysis on x-ray): 1% incidence
- Type VI – Injury to the peripheral portion of the physis and a resultant bony bridge formation which may produce an angular deformity (added in 1969 by Mercer Rang)
- Type VII – Isolated injury of the epiphyseal plate (VII–IX added in 1982 by JA Ogden)
- Type VIII – Isolated injury of the metaphysis with possible impairment of endochondral ossification
- Type IX – Injury of the periosteum which may impair intramembranous ossification
Osteochondromas are often asymptomatic and may not cause any kind of discomfort. They are often found accidentally when an X-ray is done for an unrelated reason.
- X-rays are the first tests performed that characterize a lesion. They show a clear picture of dense structures of bones, and will also indicate bone growth pertaining to osteochondroma.
- Computed Tomography (CT) scan can identify the bony lesion in great details and show the presence of calcification. These tests also provide great details, especially in soft tissues with the aide of cross-sectional images.
- Magnetic Resonance Imaging (MRI) is the most accurate method for detecting bone masses in symptomatic cases to depict precise morphology of a tumor. It is used to verify if the palpable mass is continuous with the cortex of the affected bone and to differentiate an osteochondroma from other lesions on the surface of the bone. MRI can also be used to look for cartilage on the surface of tumor and can depict any vascular complications caused by the tumor. An MRI can identify tumors of the spinal column and is often used to diagnose low grade osteosarcoma.
- Ultrasound is done if aneurysms or pseudoaneurysms and venous or arterial thrombosis is suspected. Ultrasound is an accurate method for examining the cartilaginous cap of the osteochondroma. It is also a way of pinpointing bursitis. However, it cannot be used to predict if the growth of tumor is inward in regards to the cap.
- Angiography is used to detect vascular lesions caused by osteochondroma due to ossified cartilaginous cap. It is also used to characterize malignant transformation lesions through neovascularity.
- Clinical testing such as sequence analysis can be done of the entire coding regions of both "EXT1" and "EXT2" to detect mutations.
- A biopsy of the tissue sample of the tumor can also be taken to check for cancer.
Tests for osteochondroma can also identify diseases such as secondary peripheral chondrosarcoma and Multiple osteochondromatosis. In large, secondary chondrosarcoma arises at the site of osteochondroma due to increased thickness of the cartilage cap indicating potential malignant transformation. The symptoms of multiple osteochondromatosis are similar to solitary osteochondroma, but they are often more severe. Painless bumps can arise at the site of tumor and pain and other discomforts can also take place if pressure is put on the soft tissues, nerves, or blood vessels. Dysplasia Epiphysealis Hemimelica (DEH) or Trevor's disease and metachondromatosis (MC) are considered differential diagnosis of both solitary and hereditary osteochondromas. DEH is described as a type of over growth at one or more epiphyses. Similar to osteochondroma, DEH is diagnosed prior to 15 years of age and the growth of lesions end at puberty, when the growth plates close. Metachondromatosis is a rare disorder that exhibit symptoms of both multiple osteochondromas and enchondromas in children and is also inherited in autosomal dominant mode.
The diagnosis of the cause of a limp is often made based on history, physical exam findings, laboratory tests, and radiological examination. If a limp is associated with pain it should be urgently investigated, while non-painful limps can be approached and investigated more gradually. Young children have difficulty determining the location of leg pain, thus in this population, "knee pain equals hip pain". SCFE can usually be excluded by an x-ray of the hips. A ultrasound or x-ray guided aspiration of the hip joint maybe required to rule out an infectious process within the hip.
Coxa valga is a deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased, usually above 135 degrees. It is caused by a slipped epiphysis of the femoral head.
The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis.
Trevor disease can often mimic posttraumatic osseous fragments, synovial chondromatosis, ostechondroma, or anterior spur of ankle. It is not possible to distinguish DEH from osteochondroma on the basis of histopathology alone. Special molecular tests of the genes EXT1, EXT2 are used for the analysis of genetic expressions. These are within normal ranges in DEH, while they are lower in ostechondroma (owing to a mutation). These tests are expensive and the diagnosis is often made on clinical and radiological findings. Synovial chondromatosis occurs in a much older age group and can be ruled out on this basis.
Symptomatic individuals should be seen by an orthopedist to assess the possibility of treatment (physiotherapy for muscular strengthening, cautious use of analgesic medications such as nonsteroidal anti-inflammatory drugs). Although there is no cure, surgery is sometimes used to relieve symptoms. Surgery may be necessary to treat malformation of the hip (osteotomy of the pelvis or the collum femoris) and, in some cases, malformation (e.g., genu varum or genu valgum). In some cases, total hip replacement may be necessary. However, surgery is not always necessary or appropriate.
Sports involving joint overload are to be avoided, while swimming or cycling are strongly suggested. Cycling has to be avoided in people having ligamentous laxity.
Weight control is suggested.
The use of crutches, other deambulatory aids or wheelchair is useful to prevent hip pain. Pain in the hand while writing can be avoided using a pen with wide grip.
Most reported cases of DEH in the literature have been treated surgically, with excision of the mass, as well as by the correction
of any deformity, while preserving the integrity of the affected joint as much as possible.
There are no set standards for the diagnosis of suspected transient synovitis, so the amount of investigations will depend on the need to exclude other, more serious diseases.
Inflammatory parameters in the blood may be slightly raised (these include erythrocyte sedimentation rate, C-reactive protein and white blood cell count), but raised inflammatory markers are strong predictors of other more serious conditions such as septic arthritis.
X-ray imaging of the hip is most often unremarkable. Subtle radiographic signs include an accentuated pericapsular shadow, widening of the medial joint space, lateral displacement of the femoral epiphyses with surface flattening (Waldenström sign), prominent obturator shadow, diminution of soft tissue planes around the hip joint or slight demineralisation of the proximal femur. The main reason for radiographic examination is to exclude bony lesions such as occult fractures, slipped upper femoral epiphysis or bone tumours (such as osteoid osteoma). An anteroposterior and frog lateral (Lauenstein) view of the pelvis and both hips is advisable.
An ultrasound scan of the hip can easily demonstrate fluid inside the joint capsule (Fabella sign), although this is not always present in transient synovitis. However, it cannot reliably distinguish between septic arthritis and transient synovitis. If septic arthritis needs to be ruled out, needle aspiration of the fluid can be performed under ultrasound guidance. In transient synovitis, the joint fluid will be clear. In septic arthritis, there will be pus in the joint, which can be sent for bacterial culture and antibiotic sensitivity testing.
More advanced imaging techniques can be used if the clinical picture is unclear; the exact role of different imaging modalities remains uncertain. Some studies have demonstrated findings on magnetic resonance imaging (MRI scan) that can differentiate between septic arthritis and transient synovitis (for example, signal intensity of adjacent bone marrow). Skeletal scintigraphy can be entirely normal in transient synovitis, and scintigraphic findings do not distinguish transient synovitis from other joint conditions in children. CT scanning does not appear helpful.
Because kniest dysplasia can affect various body systems, treatments can vary between non-surgical and surgical treatment. Patients will be monitored over time, and treatments will be provided based on the complications that arise.
Osteochondromas are benign lesions and do not affect life expectancy. Complete excision of osteochondroma is curative and the reoccurrences take place when the removal of tumor is incomplete. Multiple reoccurrences in a well-excised lesion indicate that it may be malignant. The risk of malignant transformation takes place in 1–5% of individuals. If any symptoms of cancerous tumor takes place, then the patient should be evaluated by a bone specialist. No treatment is necessary for Solitary osteochondromas that are asymptomatic. Treatments for solitary osteochondroma are careful observation over time and taking regular x-rays to monitor any changes in the tumor. If the lesion is causing pain with activity, nerve or vessel impingement, or if the bone growth has fully matured and the presence of a large cartilage cap is prominent, then it is advised that the tumor be surgically removed.
Osteochondromas have a low rate of malignancy (<1%) and resection of the tumor is suggested if symptoms such as pain, limitation of movement, or impingement on nerves or vessels occur. Resection of the tumor also takes place when the tumor increases in size and progresses towards malignancy. During surgical resection, the entire lesion along with the cartilaginous cap should be removed to minimize any chances of reoccurrences. Surgical treatment becomes the sole treatment of choice if common complications such as fractures, symptoms of peripheral nerves such as paresthesia, paraplegia, peroneal neuropathy, and upper limb neuropathy take place. A prophylactic resection is suggested if the lesion lies next to a vessel.
Depending on the size and location of the tumor, the time it takes to return to normal daily activities varies between individuals. Limitation on some activities is advised if pain or discomfort persists after surgical excision.
The deformities are managed surgically to preserve the function of the limb.
A limp at one hospital emergency department was the presenting complaint in 4% of children. It occurs twice as commonly in boys as in girls.
One person in every 100,000 is affected. Ollier disease is not normally diagnosed until toddler years because it is not very visible.
Pain in or around the hip and/or limp in children can be due to a large number of conditions. Septic arthritis (a bacterial infection of the joint) is the most important differential diagnosis, because it can quickly cause irreversible damage to the hip joint. Fever, raised inflammatory markers on blood tests and severe symptoms (inability to bear weight, pronounced muscle guarding) all point to septic arthritis, but a high index of suspicion remains necessary even if these are not present. Osteomyelitis (infection of the bone tissue) can also cause pain and limp.
Bone fractures, such as a toddler's fracture (spiral fracture of the shin bone), can also cause pain and limp, but are uncommon around the hip joint. Soft tissue injuries can be evident when bruises are present. Muscle or ligament injuries can be contracted during heavy physical activity —however, it is important not to miss a slipped upper femoral epiphysis. Avascular necrosis of the femoral head (Legg-Calvé-Perthes disease) typically occurs in children aged 4–8, and is also more common in boys. There may be an effusion on ultrasound, similar to transient synovitis.
Neurological conditions can also present with a limp. If developmental dysplasia of the hip is missed early in life, it can come to attention later in this way. Pain in the groin can also be caused by diseases of the organs in the abdomen (such as a psoas abscess) or by testicular disease. Rarely, there is an underlying rheumatic condition (juvenile idiopathic arthritis, Lyme arthritis, gonococcal arthritis, ...) or bone tumour.
Chondromyxoid fibromas can share characteristics with chondroblastomas with regards to histologic and radiographic findings. However they more commonly originate from the metaphysis, lack calcification and have a different histologic organization pattern. Other differential diagnoses for chondroblastoma consist of giant cell tumors, bone cysts, eosinophilic granulomas, clear cell chondrosarcomas, and enchondromas (this list is not exhaustive).
Chondroid differentiation is a common feature of chondroblastoma. A typical histological appearance consists of a combination of oval mononuclear and multi-nucleated osteoclast-type giant cells. However this is not a prerequisite for diagnosis, as cells with epithelioid characteristics have been observed in lesions of the skull and facial bones. A "chicken-wire" appearance is characteristic of chondroblastoma cells and is the result of dystrophic calcification that may surround individual cells. Although, calcification may not be present and is not a prerequisite for diagnosis. Mitotic figures can be observed in chondroblastoma tissue but are not considered atypical in nature, and therefore, should not be viewed as a sign of a more serious pathology. There is no correlation between mitotic activity and location of the lesion. Furthermore, the presence of atypical cells is rare and is not associated with malignant chondroblastoma. There are no discernible histological differences observed when comparing the aggressive form of chondroblastoma that can cause recurrence or metastases with its less aggressive, benign, counterpart.