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Blount's disease occurs in young children and adolescents. The cause is unknown but is thought to be due to the effects of weight on the growth plate. The inner part of the tibia, just below the knee, fails to develop normally, causing angulation of the bone.
Unlike bowlegs, which tend to straighten as the child develops, Blount's disease is progressive and the condition worsens. It can cause severe bowing of the legs and can affect one or both legs.
This condition is more common among children of African ancestry. It is also associated with obesity, short stature, and early walking. There does not appear to be an obvious genetic factor.
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.
The disease has been reported to affect 3 per 1000 infants younger than 6 months in the United States. No predilection by race or sex has been established. Almost all cases occur by the age of 5 months. The familial form is inherited in an autosomal dominant fashion with variable penetrance. The familial form tends to have an earlier onset and is present at birth in 24% of cases, with an average age at onset of 6.8 weeks. The average age at onset for the sporadic form is 9–11 weeks.
Cortical hyperostosis is a potential side effect of long-term use of prostaglandins in neonates.
While the exact cause of enchondroma is not known, it is believed to occur either as an overgrowth of the cartilage that lines the ends of the bones, or as a persistent growth of original, embryonic cartilage.
Osteofibrous dysplasia (also known as ossifying fibroma) is a rare, benign non-neoplastic condition with no known cause. It is considered a fibrovascular defect. Campanacci described this condition in two leg bones, the tibia and fibula, and coined the term. This condition should be differentiated from Nonossifying fibroma and fibrous dysplasia of bone.
An enchondroma may occur as an individual tumor or several tumors. The conditions that involve multiple lesions include the following:
- Ollier disease (enchondromatosis) - when multiple sites in the body develop the tumors. Ollier disease is very rare.
- Maffucci's syndrome - a combination of multiple tumors and angiomas (benign tumors made up of blood vessels).
Recurrence rate of solid form of tumour is lower than classic form.
The majority of cases occur in the second and third decades, with approximately 75% of cases occurring before the age of 30 years 1,12-15. There is no recognised gender predilection. Examples have however been seen in patients up to the age of 75 years. In some series there is a male predilection 12 whilst in others no such distribution is found 2
In most cases persisting after childhood, there is little or no effect on the ability to walk. Due to uneven stress and wear on the knees, however, even milder manifestations can see an accelerated onset of arthritis.
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.
Chondromyxoid fibroma is a type of cartilaginous tumor.
Most cases are characterised by GRM1 gene fusion or promoter swapping. It can be associated with a translocation at t(1;5)(p13;p13).
A chondromyxoid fibroma (CMF) is an extremely rare benign cartilaginous neoplasm which accounts for < 1% bone tumours.
It is common in age group of 10–30 years. It is second most common tumor of spine and commonest benign tumor of pelvis in pediatric population. Incidence is slightly more in males than females (1.3:1).
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.
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 incidence is less than 1/1.000.000. Fewer than 50 cases have been reported so far.
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
At the core of the disorder there is a homozygous or compound heterozygous mutation or deletion of the SHOX (Short Stature Homeobox), SHOXY (Short Stature Homeobox Y-linked) or PAR1 (where SHOX enhancer elements are located) genes, which is inherited in a pseudosomal recessive manner.
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).
It is caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.
SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.
Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula.
There are typically four classes (or "types") of PFFD, ranging from class A to class D, as detailed by Aitken.
The most common bone tumor is called osteosarcoma, and typically affects middle-age to older dogs of large and giant breeds. Osteosarcoma is less common in cats. Osteosarcoma is an aggressive cancer that can develop in any bone of the body but the majority is seen in the limbs (e.g. long bones such as radius, humerus, femur, and tibia).
Saber shin is a malformation of the tibia. It presents as a sharp anterior bowing, or convexity, of the tibia.
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.
Tibia shaft fractures are the most common long bone fractures. They account for approximately 4% of the fractures seen in the Medicare population.
Infantile cortical hyperostosis is a self-limited condition, meaning that the disease resolves on its own without treatment, usually within 6–9 months. Long-term deformities of the involved bones, including bony fusions and limb-length inequalities, are possible but rare.