| Blount's disease | |
|---|---|
| Other names | Tibia vara |
 | |
| Blount's disease is inherited in an autosomal recessive manner (may be multifactorial as well). [1] | |
| Specialty | Rheumatology  |
Blount's disease (or Blount disease) is a growth disorder of the tibia (shin bone) which causes the lower leg to angle inward, resembling a bowleg.[ citation needed ] [2] It is also known as "tibia vara". [3] [2]
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Blount disease is a growth disorder of the shin bone which causes the lower leg to angle inward, resembling a bowleg. It can present in boys under 4-years in both legs, or in adolescents usually on one side. Causes are thought to be genetic and environmental, like obesity, African-American lineage, and early walkers. [4]
Lower extremity deformities in Rickets can closely mimic those produced by Blount's disease. To differentiate between Rickets and Blount's disease it is important to correlate the clinical picture with laboratory findings such as calcium, phosphorus and alkaline phosphatase. Besides the X-ray appearance. Bone deformities in Rickets have a reasonable likelihood to correct over time, while this is not the case with Blount's disease. Nevertheless, both disorders may need surgical intervention in the form of bone osteotomy or more commonly guided growth surgery. [5] Osteochondrodysplasias or genetic bone diseases can cause lower extremity deformities similar to Blount's disease. The clinical appearance and the characteristic radiographic are important to confirm the diagnosis. [6] [7]
Children who develop severe bowing before the age of 3 may be treated with knee ankle foot orthoses. [9] However, bracing may fail, or bowing may not be detected until the child is older. Bracing should be started by 3 years of age. In some cases, surgery may be performed. [10] [2] [11] [8]
Blount disease is one of the 8 severe comorbidities of severe obesity (BMI >35), which are an indication for bariatric surgery in children per a 2019 policy statement of the American Academy of Pediatrics. The other severe comorbidities are: obstructive sleep apnea (Apnea-Hypopnea Index > .5), Type2 Diabetes mellitus, idiopathic intracranial hypertension (IIH), nonalcoholic steatohepatitis, SCFE, GERD, and hypertension. [12]
Blount disease is named after Walter Putnam Blount (1900–1992), an American pediatric orthopedic surgeon, who described it in 1937. [13] [14] It has also been known as Mau-Nilsonne syndrome, after C. Mau and H. Nilsonne, who published early case reports of the condition. [15] [16] it is today considered an acquired disease of the proximal tibial metaphysis rather than an epiphyseal dysplasia or osteochondrosis. [11]
Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary deficiency or genetic causes. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone deformities, bone pseudofractures and fractures, muscle spasms, or an abnormally curved spine.
Kyphosis is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis. It can result from degenerative disc disease; developmental abnormalities, most commonly Scheuermann's disease; Copenhagen disease, osteoporosis with compression fractures of the vertebra; multiple myeloma; or trauma. A normal thoracic spine extends from the 1st thoracic to the 12th thoracic vertebra and should have a slight kyphotic angle, ranging from 20° to 45°. When the "roundness" of the upper spine increases past 45° it is called kyphosis or "hyperkyphosis". Scheuermann's kyphosis is the most classic form of hyperkyphosis and is the result of wedged vertebrae that develop during adolescence. The cause is not currently known and the condition appears to be multifactorial and is seen more frequently in males than females.
An osteotomy is a surgical operation whereby a bone is cut to shorten or lengthen it or to change its alignment. It is sometimes performed to correct a hallux valgus, or to straighten a bone that has healed crookedly following a fracture. It is also used to correct a coxa vara, genu valgum, and genu varum. The operation is done under a general anaesthetic.
Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened and the development of a limp. It may be congenital and is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, causing it to bend under the weight of the body. This may either be congenital or the result of a bone disorder. The most common cause of coxa vara is either congenital or developmental. Other common causes include metabolic bone diseases, post-Perthes deformity, osteomyelitis, and post traumatic. Shepherd's Crook deformity is a severe form of coxa vara where the proximal femur is severely deformed with a reduction in the neck shaft angle beyond 90 degrees. It is most commonly a sequela of osteogenesis imperfecta, Paget's disease, osteomyelitis, tumour and tumour-like conditions.
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 means "bent outwards", but is also used to describe the distal portion of the knee joint which bends outwards and thus the proximal portion seems to be bent inwards.
Genu varum is a varus deformity marked by (outward) bowing at the knee, which means that the lower leg is angled inward (medially) in relation to the thigh's axis, giving the limb overall the appearance of an archer's bow. Usually medial angulation of both lower limb bones is involved.
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas. Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence. A small percentage of affected individuals are at risk for development of sarcomas as a result of malignant transformation. The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals. Hereditary multiple osteochondromas is the preferred term used by the World Health Organization.
A varus deformity is an excessive inward angulation of the distal segment of a bone or joint. The opposite of varus is called valgus.
A valgus deformity is a condition in which the bone segment distal to a joint is angled outward, that is, angled laterally, away from the body's midline. The opposite deformation, where the twist or angulation is directed medially, toward the center of the body, is called varus.
An osteochondrodysplasia, or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality.
The epiphyseal plate, epiphysial plate, physis, or growth plate is a hyaline cartilage plate in the metaphysis at each end of a long bone. It is the part of a long bone where new bone growth takes place; that is, the whole bone is alive, with maintenance remodeling throughout its existing bone tissue, but the growth plate is the place where the long bone grows longer.
Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities.
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.
Unicompartmental knee arthroplasty (UKA) is a surgical procedure used to relieve arthritis in one of the knee compartments in which the damaged parts of the knee are replaced. UKA surgery may reduce post-operative pain and have a shorter recovery period than a total knee replacement procedure, particularly in people over 75 years of age. Moreover, UKAs may require a smaller incision, less tissue damage, and faster recovery times.
Macrodystrophia lipomatosa (ML) is a rare congenital disorder characterized by localised overgrowth of a part of an extremity or less commonly a whole extremity. The involvement of more than one extremity is even more uncommon. There is a slight predilection for the lower limb affection, namely the foot. The overgrown region consists predominantly of adipose tissue, but other tissue components that represent the mesenchyme may be involved.
Epiphysiodesis is a pediatric orthopedic surgery procedure that aims at altering or stopping the bone growth naturally occurring through the growth plate also known as the physeal plate. There are two types of epiphysiodesis: temporary hemiepiphysiodesis and permanent epiphysiodesis. Temporary hemiepiphysiodesis is also known as guided growth surgery or growth modulation surgery. Temporary hemiepiphysiodesis is reversible i.e. the metal implants used to achieve epiphysiodesis can be removed after the desired correction is achieved and the growth plate can thus resume its normal growth and function. In contrast, permanent epiphysiodesis is irreversible and the growth plate function cannot be restored after surgery. Both temporary hemiepiphysiodesis and permanent epiphysiodesis are used to treat a diverse array of pediatric orthopedic disorders but the exact indications for each procedure are different.
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.
High tibial osteotomy is an orthopaedic surgical procedure which aims to correct a varus deformation with compartmental osteoarthritis. Since the inception of the procedure, advancements to technique, fixation devices, and a better understanding of patient selection has allowed HTO to become more popular in younger, more active patients hoping to combat arthritis. The idea behind the procedure is to realign the weight-bearing line of the knee. By realigning the knee, the force produced from weight-bearing is shifted from the arthritic, medial compartment to the healthy, lateral compartment. This decrease in force or load in the diseased part of the knee joint decreases knee pain and can delay the development or progression of osteoarthritis in the medial compartment.
Orthopedic surgery is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal injuries, sports injuries, degenerative diseases, infections, bone tumours, and congenital limb deformities. Trauma surgery and traumatology is a sub-specialty dealing with the operative management of fractures, major trauma and the multiply-injured patient.
David S. Feldman is an American orthopedic surgeon, author, contributor to NIH, and Professor of Orthopedic Surgery and Pediatrics at NYU Langone. His work involves spinal deformities and complex conditions such as Arthrogryposis, skeletal dysplasia|, scoliosis, multiple hereditary exostoses, congenital pseudarthrosis of the tibia, hip dysplasia, and Legg–Calvé–Perthes disease as well as lower limb deformities and limb length discrepancies.