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Bowing of one or both legs that may:
- Be rapidly progressive
- Appear asymmetric
- Primarily occur just below the knee
Pectus carinatum is an overgrowth of costal cartilage causing the sternum to protrude forward. It primarily occurs among four different patient groups, and males are more frequently affected than females. Most commonly, pectus carinatum develops in 11-to-14-year-old pubertal males undergoing a growth spurt. Some parents report that their child's pectus carinatum seemingly popped up overnight. Second most common is the presence of pectus carinatum at or shortly after birth. The condition may be evident in newborns as a rounded anterior chest wall. As the child reaches age 2 or 3 years of age, the outward sternal protrusion becomes more pronounced. Pectus carinatum can also be caused by vitamin D deficiency in children (Rickets) due to deposition of unmineralized osteoid. Least common is a pectus carinatum malformation following open-heart surgery or in children with poorly controlled bronchial asthma.
Pectus carinatum is generally a solitary, non-syndromic abnormality. However, the condition may be present in association with other syndromes: Turner syndrome, Noonan syndrome, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Morquio syndrome, trisomy 18, trisomy 21, homocystinuria, osteogenesis imperfecta, multiple lentigines syndrome (LEOPARD syndrome), Sly syndrome (mucopolysaccharidosis type VII), and scoliosis.
In about 25% of cases of pectus carinatum, the patient has a family member with the condition.
Failure to treat Blount's disease may lead to progressive deformity.Blount's disease may come back after surgery, especially in younger children. Because of the bowing, a leg-length discrepancy may result. This may result in disability if the discrepancy is significant (greater than 1 inch) and is not treated.
People with pectus carinatum usually develop normal hearts and lungs, but the malformation may prevent these from functioning optimally. In moderate to severe cases of pectus carinatum, the chest wall is rigidly held in an outward position. Thus, respirations are inefficient and the individual needs to use the accessory muscles for respiration, rather than normal chest muscles, during strenuous exercise. This negatively affects gas exchange and causes a decrease in stamina. Children with pectus malformations often tire sooner than their peers, due to shortness of breath and fatigue. Commonly concurrent is mild to moderate asthma.
Some children with pectus carinatum also have scoliosis (i.e., curvature of the spine). Some have mitral valve prolapse, a condition in which the heart mitral valve functions abnormally. Connective tissue disorders involving structural abnormalities of the major blood vessels and heart valves are also seen. Although rarely seen, some children have other connective tissue disorders, including arthritis, visual impairment and healing impairment.
Apart from the possible physiologic consequences, pectus malformations can have a significant psychologic impact. Some people, especially those with milder cases, live happily with pectus carinatum. For others, though, the shape of the chest can damage their self-image and confidence, possibly disrupting social connections and causing them to feel uncomfortable throughout adolescence and adulthood. As the child grows older, bodybuilding techniques may be useful for balancing visual impact.
A less common variant of pectus carinatum is "pectus arcuatum" (also called type 2 pectus excavatum, chondromanubrial malformation or Currarino–Silverman syndrome or pouter pigeon malformation), which produces a manubrial and upper sternal protrusion, particularly also at the sternal angle. Pectus arcuatum is often confused with a combination of pectus carinatum and pectus excavatum, but in pectus arcuatum the visual appearance is characterized by a protrusion of the costal cartilages and there is no depression of the sternum.
The hallmark of the condition is a sunken appearance of the sternum. The most common form is a cup-shaped concavity, involving the lower end of the sternum; also a broader concavity involving the upper costal cartilages is possible. The lower-most ribs may protrude ("flared ribs"). Pectus excavatum defects may be symmetric or asymmetric.
People may also experience chest and back pain, which is usually of musculoskeletal origin.
In mild cases, cardiorespiratory function is normal, although the heart can be displaced and/or rotated. In severe cases, mitral valve prolapse may be present and physical capability may be limited due to base lung capacity being decreased.
Psychological symptoms manifest with feelings of embarrassment, social anxiety, shame, limited capacity for activities and communication, negativity, intolerance, frustration, and even depression.
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.
Triplane fracture is a fracture at the epiphyseal plate of the tibia in early adolescence with involvement of the epiphysis and metaphysis of the tibia. The link presents two types of imaging. The first four images (figures 1-4) are radiographic images while the last 3 are CT scans of the left distal tibia and fibula. The first radiographic image is an anterior-posterior view of the distal third of the left tibia and fibula. The image presents a fracture of the distal epiphyseal plate of the tibia and fibula. The primary imaging (radiograph) identifies the abnormality in the anatomy of subject’s left distal tibia and fibula. However, it is difficult to view the extent of the fracture and classify the fracture based on radiographic image. Figure four is a CT scan of the posterior aspect of the left distal tibia and fibula. Note that in this image the extent of the fracture is more visible extending to the epiphysis and metaphysis. The type of fracture is a Salter-Harris type IV. The CT scan was an appropriate choice of advance imaging which helps clinicians determine the extent of the fracture and enable us to address the problem appropriately.
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.
The most prominent and extensively documented findings of Weismann-Netter-Stuhl syndrome are on plain radiographs of the bones. Findings include bilateral and symmetric anterior bowing of both tibiae and fibulae, lateral bowing of the tibiae, femoral bowing, and squaring of iliac and pelvis bones.
Weismann-Netter-Stuhl syndrome, also known as Weismann-Netter Syndrome or more technically by the term tibioperoneal diaphyseal toxopachyosteosis, is a rare disorder characterized by bowing of the lower legs and an abnormal thickening of thinner bone in the leg.
The main sign is anterior bowing and posterior cortical thickening of the diaphyses of both the tibiae and fibulae. It is thought to be inherited in an autosomal dominant fashion, and is most often bilateral and symmetric in nature. Associated features include dwarfism and mild intellectual disability, as well as a process known as tibialization of the fibulae, which involves thickening and enlargement of these bones to an extent resembling the tibiae. The combination of the presence of tibialization of the fibulae, which is highly specific for the disorder, and the absence of laboratory abnormalities ruling out alternative diagnoses including rickets, essentially confirms the diagnosis.
Typical symptoms include pain, refusing to walk or bear weight and limping -bruising and deformity are absent. On clinical examination, there can be warmth and swelling over the fracture area, as well as pain on bending the foot upwards (dorsiflexion). The initial radiographical images may be inconspicuous (a faint oblique line) and often even completely normal. After 1–2 weeks however, callus formation develops. The condition can be mistaken for osteomyelitis, transient synovitis or even child abuse. Contrary to CAST fractures, non-accidental injury typically affect the upper two-thirds or midshaft of the tibia.
Other possible fractures in this area, occurring in the cuboid, calcaneus, and fibula, can be associated or can be mistaken for a toddler's fracture. In some cases, an internal oblique radiography and radionuclide imaging can add information to anterior-posterior and lateral views. However, since treatment can also be initiated in the absence of abnormalities, this appears to have little value in most cases. It could be useful in special cases such as children with fever, those without a clear trauma or those in which the diagnosis remains unclear. Recently, ultrasound has been suggested as a helpful diagnostic tool.
Pectus excavatum is a congenital deformity of the anterior thoracic wall in which the sternum and rib cage grow abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or not develop until puberty.
Pectus excavatum is sometimes considered to be cosmetic, but depending on the severity, it can impair cardiac and respiratory function and cause pain in the chest and back.
People with the condition may experience negative psychosocial effects, and avoid activities that expose the chest in some societies.
It can result from syphilis, yaws, Paget's disease of bone, Vitamin D deficiency, or Weismann-Netter-Stuhl syndrome.
It can be due to osteomalacia
Toddler's fractures or childhood accidental spiral tibial (CAST) fractures are bone fractures of the distal (lower) part of the shin bone (tibia) in toddlers (aged 9 months-3 years) and other young children (less than 8 years). The fracture is found in the distal two thirds of the tibia in 95% of cases, is undisplaced and has a spiral pattern. It occurs after low-energy trauma, sometimes with a rotational component.
People with this condition are short-statured from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Curvature of the spine (scoliosis and lumbar lordosis) may be severe and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and a foot deformity known as clubfoot.
Affected individuals have mild and variable changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) and detachment of the retina (the part of the eye that detects light and color) are also common.
Very frequent signs
- Abnormal gastrointestinal tract
- Absent pectoral muscles
- Brachydactyly (Short fingers)
- Dextrocardia
- Diaphragmatic hernia/defect
- Humerus absent/abnormal
- Liver/biliary tract anomalies
- Maternal diabetes
- Oligodactyly/missing fingers
- Radius absent/abnormal
- Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)
- Sparsity or abnormality of axillary hair on affected side
- Syndactyly of fingers (webbing)
- Ulna absent/abnormal
- Upper limb asymmetry
- Abnormal rib
- Simian crease on affected side
Frequent signs
- Hypoplastic/absent nipples
- Scapula anomaly
Occasional signs
- Agenesis/hypoplasia of kidneys
- Encephalocele/exencephaly
- Abnormal morphology of hypothalamic-hypophyseal axis
- Abnormal function of hypothalamic-hypophyseal axis
- Microcephaly
- Preaxial polydactyly
- Ureteric anomalies (reflux/duplex system)
- Vertebral segmentation anomaly
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).
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
Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body, and usually also webbing of the fingers (cutaneous syndactyly) of the hand on the same side (the ipsilateral hand). In most affected individuals, the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breastbone (sternum) on the other. Other abnormalities may occur on the affected side of the torso. In some cases, additional muscles in the chest wall, side, and shoulder are missing or underdeveloped.
There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Poland syndrome most often affects the right side of the body, and occurs more often in males than in females.
It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation, but others recommend using alternate terminology in those cases.
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses and metaphyses). This type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, types II and XI.
The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder. Beginning in childhood, the two conditions can be distinguished in X-ray images by changes in areas near the ends of bones (metaphyses). These changes are characteristic of spondyloepimetaphyseal dysplasia, Strudwick type.
Unequal leg length (also termed leg length inequality, LLI or leg length discrepancy, LLD) is where the legs are either different lengths or appear to be different lengths because of misalignment.
Saber refers to the tibia's resemblance to the curve of a saber sword.
The Segond fracture is a type of avulsion fracture (soft tissue structures tearing off bits of their bony attachment) of the lateral tibial condyle of the knee, immediately beyond the surface which articulates with the femur.
Tibia shaft fracture is a fracture of the proximal (upper) third of the tibia (lower leg bone). Due to the location of the tibia, it is frequently injured. Thus it is the most commonly fractured long bone in the body.
Patients with tibial shaft fractures present with pain and localized swelling. Due to the pain they are unable to bear weight. There may be deformity, angulation, or malroation of the leg. Fractures that are open (bone exposed or breaking the skin) are common.