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Classification of radial dysplasia is practised through different models. Some only include the different deformities or absences of the radius, where others also include anomalies of the thumb and carpal bones. The Bayne and Klug classification discriminates four different types of radial dysplasia. A fifth type was added by Goldfarb et al. describing a radial dysplasia with participation of the humerus. In this classification only anomalies of the radius and the humerus are taken in consideration. James and colleagues expanded this classification by including deficiencies of the carpal bones with a normal distal radius length as type 0 and isolated thumb anomalies as type N.
Type N: Isolated thumb anomaly
Type 0: Deficiency of the carpal bones
Type I: Short distal radius
Type II: Hypoplastic radius in miniature
Type III: Absent distal radius
Type IV: Complete absent radius
Type V: Complete absent radius and manifestations in the proximal humerus
The term absent radius can refer to the last 3 types.
It is a congenital subluxation or dislocation of the ulna's distal end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the distal end of the radius with upward displacement of the distal fragment. The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked radial deviation of the hand. Severe deformities are associated with congenital absence or hypoplasia of the radius.
The male:female rate of this disorder is 1:4. The incidence is unknown, and there is no described racial predominance. Even though Madelung's Deformity is considered a congenital disorder, symptoms sometimes aren't seen until adulthood. In most cases, symptoms find their onset during midchildhood. At this age, the relatively slower growth of the ulnar and palmar part of the radius, leads to an increasingly progressive deformity. Pain and deformity are the main symptoms patients present with. Typical clinical presentation consists of a short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm. As mentioned before, the severity of the disorder varies greatly, which also leads to a spectrum of presentation.
Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting in radial deviation of the wrist and shortening of the forearm. It can occur in different ways, from a minor anomaly to complete absence of the radius, radial side of the carpal bones and thumb. Hypoplasia of the distal humerus may be present as well and can lead to stiffnes of the elbow. Radial deviation of the wrist is caused by lack of support to the carpus, radial deviation may be reinforced if forearm muscles are functioning poorly or have abnormal insertions. Although radial longitudinal deficiency is often bilateral, the extent of involvement is most often asymmetric.
The incidence is between 1:30,000 and 1:100,000 and it is more often a sporadic mutation rather than an inherited condition. In case of an inherited condition, several syndromes are known for an association with radial dysplasia, such as the cardiovascular Holt-Oram syndrome, the gastrointestinal VATER syndrome and the hematologic Fanconi anemia and TAR syndrome. Other possible causes are an injury to the apical ectodermal ridge during upper limb development, intrauterine compression, or maternal drug use (thalidomide).
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral (in both wrists) or just in the one wrist.
It has only been recognized within the past hundred years.
Symptoms include:
- The child stops using the arm, which is held in extension (or slightly bent) and palm down.
- Minimal swelling.
- All movements are permitted except supination.
- Caused by longitudinal traction with the wrist in pronation, although in a series only 51% of people were reported to have this mechanism, with 22% reporting falls, and patients less than 6 months of age noted to have the injury after rolling over in bed.
As with certain cases of flat feet, high arches may be painful due to metatarsal compression; however, high arches— particularly if they are flexible or properly cared-for—may be an asymptomatic condition.
People with pes cavus sometimes—though not always—have difficulty finding shoes that fit and may require support in their shoes. Children with high arches who have difficulty walking may wear specially-designed insoles, which are available in various sizes and can be made to order.
Individuals with pes cavus frequently report foot pain, which can lead to a significant limitation in function. The range of complaints reported in the literature include metatarsalgia, pain under the first metatarsal, plantar fasciitis, painful callosities, ankle arthritis, and Achilles tendonitis.
There are many other symptoms believed to be related to the cavus foot. These include shoe-fitting problems, lateral ankle instability, lower limb stress fractures, knee pain, iliotibial band friction syndrome, back pain and tripping.
Foot pain in people with pes cavus may result from abnormal plantar pressure loading because, structurally, the cavoid foot is regarded as being rigid and non-shock absorbent and having reduced ground contact area. There have previously been reports of an association between excessive plantar pressure and foot pathology in people with pes cavus.
On weightbearing projectional radiography, pes cavus can be diagnosed and graded by several features, the most important being medial peritalar subluxation, increased calcaneal pitch (variable) and abnormal "talar-1st metatarsal angle" (Meary's angle). Medial peritalar subluxation can be demonstrated by a medially rotated talonavicular coverage angle.
Ulnar deviation, also known as ulnar drift, is a hand deformity in which the swelling of the metacarpophalangeal joints (the big knuckles at the base of the fingers) causes the fingers to become displaced, tending towards the little finger. Its name comes from the displacement toward the ulna (as opposed to radial deviation, in which fingers are displaced toward the radius). Ulnar deviation is likely to be a characteristic of rheumatoid arthritis, more than of osteoarthritis. Consideration should also be given to Pigmented Villonodular Synovitis, in the setting of ulnar deviation and metacarpophalangeal synovitis.
Ulnar deviation is also a physiological movement of the wrist, where the hand including the fingers move towards the ulna.
Ulnar deviation is a disorder in which flexion by ulnar nerve innervated muscles is intact while flexion on the median nerve side is not.
Characteristics are:
- A fibrous band instead of the fibula
- Short deformed leg
- Absence of the lateral part of the ankle joint (due to absence of the distal end of the fibula), and what is left is unstable; the foot has an equinovalgus deformity
- Possible absence of part of the foot requiring surgical intervention to bring the foot into normal function, or amputation.
- Possible absence of one or two toes on the foot
- Possible conjoined toes or metatarsals
Partial or total absence of fibula is among the most frequent limb anomalies. It is the most common long bone deficiency and is the most common skeletal deformity in the leg. It most often is unilateral (present only on one side). It may also present as bilateral (affecting both legs). Paraxial fibular hemimelia is the most common manifestation in which only the postaxial portion of the limb is affected. It is commonly seen as a complete terminal deficiency, where the lateral rays of the foot are also affected. Hemimelia can also be intercalary in which case the foot remains unaffected. Although the missing bone is easily identified, this condition is not simply a missing bone. Males are affected twice as often as females in most series.
The most common initial symptom of wrist osteoarthritis is joint pain. The pain is brought on by activity and increases when there is activity after resting. Other signs and symptoms, as with any joint affected by osteoarthritis, include:
- Morning stiffness, which usually lasts less than 30 minutes. This is also present in patients with rheumatoid arthritis, but in those patients this typically lasts for more than 45 minutes.
- Swelling of the wrist.
- Crepitus (crackling), which is felt when the hand is moved passively.
- Joint locking, where the joint is fixed in an extended position.
- Joint instability.
These symptoms can lead to loss of function and less daily activity.
Pain and soft-tissue swelling are present at the distal-third radial fracture site and at the wrist joint. This injury is confirmed on radiographic evaluation. Forearm trauma may be associated with compartment syndrome. Anterior interosseous nerve (AIN) palsy may also be present, but it is easily missed because there is no sensory component to this finding. A purely motor nerve, the AIN is a division of the median nerve. Injury to the AIN can cause paralysis of the flexor pollicis longus and flexor digitorum profundus muscles to the index finger, resulting in loss of the pinch mechanism between the thumb and index finger. Galeazzi fractures are sometimes associated with wrist drop due to injury to radial nerve, extensor tendons or muscles.
A pulled elbow, also known as a radial head subluxation, is when the ligament that wraps around the radial head slips off. Often a child will hold their arm against their body with the elbow slightly bent. They will not move the arm as this results in pain. Touching the arm, without moving the elbow, is usually not painful.
A pulled elbow typically results from a sudden pull on an extended arm. This may occur when lifting or swinging a child by the arms. The underlying mechanism involves slippage of the annular ligament off of the head of the radius followed by the ligament getting stuck between the radius and humerus. Diagnosis is often based on symptoms. Xrays may be done to rule out other problems.
Prevention is by avoiding potential causes. Treatment is by reduction. Moving the forearm into a palms down position with straitening at the elbow appears to be more effect than moving it into a palms up position followed by bending at the elbow. Following a successful reduction the child should return to normal within a few minutes. A pulled elbow is common. It generally occurs in children between the ages of 1 and 4 years old, though it can happen up to 7 years old.
Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments which include repeated corrective osteotomies and leg-lengthening surgery (Ilizarov apparatus) are costly and associated with residual deformity.
Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and ulna bones of the forearm. This can be present at birth (congenital), when it is a result of a failure of the bones to form separately, or following an injury (post-traumatic).
It typically causes restricted movement of the forearm, in particular rotation (pronation and supination), though is not usually painful unless it causes subluxation of the radial head. It can be associated with dislocation of the radial head which leads to limited elbow extension.
People usually present with a history of an injury and localized pain. There is often a deformity in the wrist with associated swelling. Numbness of the hand can occur because of compression on the median nerve across the wrist (carpal tunnel syndrome). The wrist deformity often limits motion of the fingers.
Swelling, deformity, tenderness and loss of wrist motion are normal features on examination of a person with a distal radius fracture. Examination should rule out a skin wound which might suggest an open fracture. It is imperative to check for loss of sensation, loss of circulation to the hand, and more proximal injuries to the forearm, elbow and shoulder. The most common associated neurological finding is decreased sensation over the thenar eminence due to associated median nerve injury.
A classic "dinner fork" deformity may be seen in dorsally angulated fractures due to dorsal displacement of the carpus. The reverse deformity may be seen in volarly angulated fractures.
The Galeazzi fracture is a fracture of the distal third of the radius with dislocation of the distal radioulnar joint. It classically involves an isolated fracture of the junction of the distal third and middle third of the radius with associated subluxation or dislocation of the distal radio-ulnar joint; the injury disrupts the forearm axis joint.
Wrist osteoarthritis is a group of mechanical abnormalities resulting in joint destruction, which can occur in the wrist. These abnormalities include degeneration of cartilage and hypertrophic bone changes, which can lead to pain, swelling and loss of function. Osteoarthritis of the wrist is one of the most common conditions seen by hand surgeons.
Osteoarthritis of the wrist can be idiopathic, but it is mostly seen as a post-traumatic condition. There are different types of post-traumatic osteoarthritis. Scapholunate advanced collapse (SLAC) is the most common form, followed by Scaphoid Non-union Advanced collapse (SNAC). Other post-traumatic causes such as intra-articular fractures of the distal radius or ulna can also lead to wrist osteoarthritis, but are less common.
In general there are five types of thumb hypoplasia, originally described by Muller in 1937 and improved by Blauth, Buck-Gramcko and Manske.
- Type I: the thumb is small, normal components are present but undersized. Two muscles of the thumb, the abductor pollicis brevis and opponens pollicis, are not fully developed
. This type requires no surgical treatment in most cases.
- Type II is characterized by a tight web space between the thumb and index finger which restricts movement, poor thenar muscles and an unstable middle joint of the thumb metacarpophalangeal joint. This unstable thumb is best treated with reconstruction of the mentioned structures.
- Type III thumbs are subclassified into two subtypes by Manske. Both involve a less developed first metacarpal and a nearly absent thenar musculature. Type III-A has a fairly stable carpometacarpal joint and type III-B does not. The function of the thumb is poor. Children with type III are the most difficult patients to treat because there is not one specific treatment for the hypoplastic thumb. The limit between pollicization and reconstruction varies. Some surgeons have said that type IIIA is amenable to reconstruction and not type IIIB. Others say type IIIA is not suitable for reconstruction too. Based on the diagnosis the doctor has to decide what is needed to be done to obtain a more functional thumb, i.e. reconstruction or pollicization. In this group careful attention should be paid to anomalous tendons coming from the forearm (extrinsic muscles, like an aberrant long thumb flexor – flexor pollicis longus).
- Type IV is called a pouce flottant, floating thumb. This thumb has a neurovascular bundle which connects it to the skin of the hand. There’s no evidence of thenar muscles and rarely functioning tendons. It has a few rudimentary bones. Children with type IV are difficult to reconstruct. This type is nearly always treated with an index finger pollicization to improve hand function.
- Type V is no thumb at all and requires pollicization.
The injury can be difficult to diagnose initially as the attention is focused on the injury to the radial head, leading to the distal radio-ulnar injury being overlooked. The examination finding of tenderness of the distal radio-ulnar joint suggests an Essex-Lopresti injury in patients who have sustained high energy forearm trauma. Plain radiography shows the radial head fracture, with dorsal subluxation of the ulna often seen on lateral view of the pronated wrist.
The term "Colles fracture" is classically used to describe a fracture at the distal end of the radius, at its cortico-cancellous junction. However, now the term tends to be used loosely to describe any fracture of the distal radius, with or without involvement of the ulna, that has dorsal displacement of the fracture fragments. Colles himself described it as a fracture that “takes place at about an inch and a half (38mm) above the carpal extremity of the radius” and “the carpus and the base of metacarpus appears to be thrown backward”. The fracture is sometimes referred to as a "dinner fork" or "bayonet" deformity due to the shape of the resultant forearm.
Colles' fractures can be categorized according to several systems including Frykman, Gartland & Werley, Lidström, Nissen-Lie and the Older's classifications.
The Essex-Lopresti fracture is a fracture of the radial head with concomitant dislocation of the distal radio-ulnar joint and disruption of the interosseous membrane. The injury is named after Peter Essex-Lopresti who described it in 1951.
Thumb hypoplasia is a spectrum of congenital abnormalities of the thumb varying from small defects to absolute retardation of the thumb. It can be isolated, when only the thumb is affected, and in 60% of the cases it is associated with radial dysplasia (or radial club, radius dysplasia, longitudinal radial deficiency). Radial dysplasia is the condition in which the forearm bone and the soft tissues on the thumb side are underdeveloped or absent.
In an embryo the upper extremities develop from week four of the gestation. During the fifth to eighth week the thumb will further develop. In this period something goes wrong with the growth of the thumb but the exact cause of thumb hypoplasia is unknown.
One out of every 100,000 live births shows thumb hypoplasia. In more than 50% of the cases both hands are affected, otherwise mainly the right hand is affected.
About 86% of the children with hypoplastic thumb have associated abnormalities. Embryological hand development occurs simultaneously with growth and development of the cardiovascular, neurologic and hematopoietic systems. Thumb hypoplasia has been described in 30 syndromes wherein those abnormalities have been seen. A syndrome is a combination of three or more abnormalities. Examples of syndromes with an hypoplastic thumb are Holt-Oram syndrome, VACTERL association and thrombocytopenia absent radius (TAR syndrome).
Post-traumatic cases are most likely to develop following surgery for a forearm fracture, this is more common with high-energy injuries where the bones are broken into many pieces (comminuted). It can also develop following soft tissue injury to the forearm where there is haematoma formation.
Radial aplasia is a congenital defect which affects the formation of the radius bone in the arm. The radius is the lateral bone which connects to the wrist via articulation with the carpal bones. A child born with this condition has either a short or absent radius bone in one or both of his or her arm(s). Radial aplasia also results in the thumb being either partly formed or completely absent from the hand. Radial aplasia is connected with the condition VACTERL association. The cause for radial aplasia in unknown, but it widely believed to occur within the first ten weeks of gestation.