Radial dysplasia

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Radial dysplasia
Other namesRadial longitudinal deficiency
Klumphand.JPG
Radial club hand with thumb missing (ectrodactyly)

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. [1] Hypoplasia of the distal humerus may be present as well and can lead to stiffness of the elbow. [2] 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. [3] Although radial longitudinal deficiency is often bilateral, the extent of involvement is most often asymmetric. [1]

Contents

The incidence is between 1:30,000 and 1:100,000 and it is more often a sporadic mutation rather than an inherited condition. [1] [3] 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. [1] Other possible causes are an injury to the apical ectodermal ridge during upper limb development, [2] intrauterine compression, or maternal drug use (thalidomide). [3]

Classification

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. [4] A fifth type was added by Goldfarb et al. describing a radial dysplasia with participation of the humerus. [4] 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. [4]

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.

Treatment

Splinting and stretching

In cases of a minor deviation of the wrist, treatment by splinting and stretching alone may be a sufficient approach in treating the radial deviation in RD. Besides that, the parent can support this treatment by performing passive exercises of the hand. This will help to stretch the wrist and also possibly correct any extension contracture of the elbow. Furthermore, splinting is used as a postoperative measure trying to avoid a relapse of the radial deviation. [3]

Centralization

More severe types (Bayne type III en IV) of radial dysplasia can be treated with surgical intervention. The main goal of centralization is to increase hand function by positioning the hand over the distal ulna, and stabilizing the wrist in straight position. Splinting or soft-tissue distraction may be used preceding the centralization. In classic centralization central portions of the carpus are removed to create a notch for placement of the ulna. [5] A different approach is to place the metacarpal of the middle finger in line with the ulna with a fixation pin. [1] [3]

If radial tissues are still too short after soft-tissue stretching, soft tissue release and different approaches for manipulation of the forearm bones may be used to enable the placement of the hand onto the ulna. Possible approaches are shortening of the ulna by resection of a segment, or removing carpal bones. [6] If the ulna is significantly bent, osteotomy may be needed to straighten the ulna. [1] After placing the wrist in the correct position, radial wrist extensors are transferred to the extensor carpi ulnaris tendon, to help stabilize the wrist in straight position. [2] If the thumb or its carpometacarpal joint is absent, centralization can be followed by pollicization. Postoperatively, a long arm plaster splinter has to be worn for at least 6 to 8 weeks. A removable splint is often worn for a long period of time. [3]

Radial angulation of the hand enables patients with stiff elbows to reach their mouth for feeding; therefore treatment is contraindicated in cases of extension contracture of the elbow. [2] [3] A risk of centralization is that the procedure may cause injury to the ulnar physis, leading to early epiphyseal arrest of the ulna, and thereby resulting in an even shorter forearm. [1] [3] Sestero et al. reported that ulnar growth after centralization reaches from 48% to 58% of normal ulnar length, while ulnar growth in untreated patients reaches 64% of normal ulnar length. [7] Several reviews note that centralization can only partially correct radial deviation of the wrist and that studies with longterm follow-up show relapse of radial deviation. [6] [8]

A treated radial club hand with Type N-IV using centralization with many marks where fixation pins via an external fixation device went in. The thumb in the picture is the index finger removed and stitched to where the thumb should be located on a normal hand. RadialDysplasiaTypeN4.jpg
A treated radial club hand with Type N-IV using centralization with many marks where fixation pins via an external fixation device went in. The thumb in the picture is the index finger removed and stitched to where the thumb should be located on a normal hand.

Radialization

Buck-Gramcko described another operation technique, for treatment of radial dysplasia, which is called radialization. During radialization the metacarpal of the index finger is pinned onto the ulna and radial wrist extensors are attached to the ulnar side of the wrist, causing overcorrection or ulnar deviation. This overcorrection is believed to make relapse of radial deviation less likely. [1]

Vascularized metatarsophalangeal (MTP)-joint transfer

Villki reported a different approach in During this procedure a vascularised MTP-joint of the second toe is transferred to the radial side of ulna, creating a platform that provides radial support for the wrist. The graft is vascularised and therefore maintains its ability to join the growth of the supporting ulna. [6]

Prior to the actual transfer of the MTP-joint of the second toe soft-tissue distraction of the wrist is required to create enough space to place the MTP joint. When after several weeks enough space has been created through distraction, the actual transfer of the MTP joint can be initiated. During this surgical intervention the wrist and the second toe are prepared for transfer at the same time. The ipsilateral second toe MTP joint, together with its metatarsal arteries, its extensor and flexor tendons and its dorsal nerves to the skin, is harvested for transfer. The distal and middle phalanx of the toe are removed. The transferred toe, consisting of the metatarsal and proximal phalanx, is fixed between the physis of the ulna and the second metacarpal, or the scaphoid. The tendons of the toe are attached to those of the radial flexor and extensors muscles of the wrist to create more stability to the MTP joint. K-wires are placed to fixate the bones in the desired position. Once the bones are secured anastomosis are made between the vessels of the toe and the vessels of the forearm. After revascularization of the toe, the skin paddle is placed and the skin is closed. [9]

Vilkki et al. have conducted a study on 19 forearms treated with vascularized MTP-joint transfer with a mean follow-up of 11 years which reports an ulnar length of 67% compared to the contralateral side. [9] De Jong et al. described in a review that compared to study outcomes on centralization, Vilkki reported a smaller deviation postoperatively and a lower severity of the relapse. [6]

See also

Related Research Articles

<span class="mw-page-title-main">Carpal bones</span> Eight small bones that make up the wrist (or carpus) that connects the hand to the forearm

The carpal bones are the eight small bones that make up the wrist that connects the hand to the forearm. The term "carpus" is derived from the Latin carpus and the Greek καρπός (karpós), meaning "wrist". In human anatomy, the main role of the wrist is to facilitate effective positioning of the hand and powerful use of the extensors and flexors of the forearm, and the mobility of individual carpal bones increase the freedom of movements at the wrist.

<span class="mw-page-title-main">Ulna</span> Medial bone from forearm

The ulna is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of the forearm as the little finger. It runs parallel to the radius, the other long bone in the forearm. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore, the radius is considered to be the larger of the two.

<span class="mw-page-title-main">Wrist</span> Part of the arm between the lower arm and the hand

In human anatomy, the wrist is variously defined as (1) the carpus or carpal bones, the complex of eight bones forming the proximal skeletal segment of the hand; (2) the wrist joint or radiocarpal joint, the joint between the radius and the carpus and; (3) the anatomical region surrounding the carpus including the distal parts of the bones of the forearm and the proximal parts of the metacarpus or five metacarpal bones and the series of joints between these bones, thus referred to as wrist joints. This region also includes the carpal tunnel, the anatomical snuff box, bracelet lines, the flexor retinaculum, and the extensor retinaculum.

<span class="mw-page-title-main">Anatomical snuffbox</span> Indent on back of hand between tendons

The anatomical snuff box or snuffbox or foveola radialis is a triangular deepening on the radial, dorsal aspect of the hand—at the level of the carpal bones, specifically, the scaphoid and trapezium bones forming the floor. The name originates from the use of this surface for placing and then sniffing powdered tobacco, or "snuff." It is sometimes referred to by its French name tabatière.

The forearm is the region of the upper limb between the elbow and the wrist. The term forearm is used in anatomy to distinguish it from the arm, a word which is used to describe the entire appendage of the upper limb, but which in anatomy, technically, means only the region of the upper arm, whereas the lower "arm" is called the forearm. It is homologous to the region of the leg that lies between the knee and the ankle joints, the crus.

<span class="mw-page-title-main">Radius (bone)</span> One of the two long bones of the forearm

The radius or radial bone is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore the radius is considered to be the larger of the two. It is a long bone, prism-shaped and slightly curved longitudinally.

<span class="mw-page-title-main">Upper limb</span> Consists of the arm, forearm, and hand

The upper limbs or upper extremities are the forelimbs of an upright-postured tetrapod vertebrate, extending from the scapulae and clavicles down to and including the digits, including all the musculatures and ligaments involved with the shoulder, elbow, wrist and knuckle joints. In humans, each upper limb is divided into the arm, forearm and hand, and is primarily used for climbing, lifting and manipulating objects.

<span class="mw-page-title-main">Colles' fracture</span> Medical condition

A Colles' fracture is a type of fracture of the distal forearm in which the broken end of the radius is bent backwards. Symptoms may include pain, swelling, deformity, and bruising. Complications may include damage to the median nerve.

<span class="mw-page-title-main">Distal radius fracture</span> Fracture of the radius bone near the wrist

A distal radius fracture, also known as wrist fracture, is a break of the part of the radius bone which is close to the wrist. Symptoms include pain, bruising, and rapid-onset swelling. The ulna bone may also be broken.

<span class="mw-page-title-main">Finkelstein's test</span> Test used to diagnose de Quervains tenosynovitis

Finkelstein's test is a test used to diagnose de Quervain's tenosynovitis in people who have wrist pain.

<span class="mw-page-title-main">Galeazzi fracture</span> Medical condition

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.

<span class="mw-page-title-main">Madelung's deformity</span> Medical condition

Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral or just in the one wrist. It has only been recognized within the past hundred years. Named after Otto Wilhelm Madelung (1846–1926), a German surgeon, who described it in detail, it was noted by others. Guillaume Dupuytren mentioned it in 1834, Auguste Nélaton in 1847, and Joseph-François Malgaigne in 1855.

<span class="mw-page-title-main">Triangular fibrocartilage</span> Anatomical feature in the wrist

The triangular fibrocartilage complex (TFCC) is formed by the triangular fibrocartilage discus (TFC), the radioulnar ligaments (RULs) and the ulnocarpal ligaments (UCLs).

<span class="mw-page-title-main">Midcarpal joint</span>

The midcarpal joint is formed by the scaphoid, lunate, and triquetral bones in the proximal row, and the trapezium, trapezoid, capitate, and hamate bones in the distal row. The distal pole of the scaphoid articulates with two trapezial bones as a gliding type of joint. The proximal end of the scaphoid combines with the lunate and triquetrum to form a deep concavity that articulates with the convexity of the combined capitate and hamate in a form of diarthrodial, almost condyloid joint.

<span class="mw-page-title-main">Hand</span> Extremity at the end of an arm or forelimb

A hand is a prehensile, multi-fingered appendage located at the end of the forearm or forelimb of primates such as humans, chimpanzees, monkeys, and lemurs. A few other vertebrates such as the koala are often described as having "hands" instead of paws on their front limbs. The raccoon is usually described as having "hands" though opposable thumbs are lacking.

<span class="mw-page-title-main">Elbow</span> Joint between the upper and lower parts of the arm

The elbow is the region between the upper arm and the forearm that surrounds the elbow joint. The elbow includes prominent landmarks such as the olecranon, the cubital fossa, and the lateral and the medial epicondyles of the humerus. The elbow joint is a hinge joint between the arm and the forearm; more specifically between the humerus in the upper arm and the radius and ulna in the forearm which allows the forearm and hand to be moved towards and away from the body. The term elbow is specifically used for humans and other primates, and in other vertebrates forelimb plus joint is used.

<span class="mw-page-title-main">Extrinsic extensor muscles of the hand</span>

The extrinsic extensor muscles of the hand are located in the back of the forearm and have long tendons connecting them to bones in the hand, where they exert their action. Extrinsic denotes their location outside the hand. Extensor denotes their action which is to extend, or open flat, joints in the hand. They include the extensor carpi radialis longus (ECRL), extensor carpi radialis brevis (ECRB), extensor digitorum (ED), extensor digiti minimi (EDM), extensor carpi ulnaris (ECU), abductor pollicis longus (APL), extensor pollicis brevis (EPB), extensor pollicis longus (EPL), and extensor indicis (EI).

<span class="mw-page-title-main">Hemimelia</span> Medical condition

Hemimelia is a birth defect consisting in unilateral or bilateral underdevelopment of the distal part of the lower or upper limb. The affected bone may be shortened or not develop at all.

<span class="mw-page-title-main">Muscles of the thumb</span>

The muscles of the thumb are nine skeletal muscles located in the hand and forearm. The muscles allow for flexion, extension, adduction, abduction and opposition of the thumb. The muscles acting on the thumb can be divided into two groups: The extrinsic hand muscles, with their muscle bellies located in the forearm, and the intrinsic hand muscles, with their muscles bellies located in the hand proper.

Ulnar dysplasia also known as ulnar longitudinal deficiency, ulnar club hand or ulnar aplasia/hypoplasia is a rare congenital malformation which consists of an underdeveloped or missing ulnae bone, causing an ulnar deviation of the entire wrist. The muscles and nerves in the hand may be missing or unbalanced. In severe cases, ulnar digits may be missing. Sometimes, radial dysplasia occurs alongside this malformation. This condition occurs in 1 in 100,000 live births. Sometimes, other orthopedic problems occur alongside this malformation, such as scoliosis.

References

  1. 1 2 3 4 5 6 7 8 Bednar MS, James MA, Light TR (2009). "Congenital longitudinal deficiency". J Hand Surg. 34 (9): 1739–47. doi:10.1016/j.jhsa.2009.09.002. PMID   19896016.
  2. 1 2 3 4 Bates SJ, Hansen SL, Jones NF (2009). "Reconstruction of congenital differences of the hand". Plast Reconstr Surg. 124 (1): 128e–143e. doi:10.1097/PRS.0b013e3181a80777. PMID   19568146.
  3. 1 2 3 4 5 6 7 8 Netscher DT, Baumholtz MA (2007). "Treatment of congenital upper extremity problems". Plast Reconstr Surg. 119 (5): 101e–129e. doi:10.1097/01.prs.0000258535.31613.43. PMID   17415231.
  4. 1 2 3 Goldfarb CA, Manske PR, Busa R, Mills J, Carter P, Ezaki M (2005). "Upper-extremity phocomelia reexamined: a longitudinal dysplasia". J Bone Joint Surg Am. 87 (12): 2639–48. doi:10.2106/JBJS.D.02011. PMID   16322613.
  5. ↑ Lamb DW. (1991). "The treatment of longitdunal radial deficiency". Prosthet Orthot Int. 15 (2): 100–3. doi: 10.3109/03093649109164642 . PMID   1923709.
  6. 1 2 3 4 de Jong JP, Moran SL, Vilkki SK (2012). "Changing Paradigms in the Treatment of Radial Club Hand: Microvascular Joint Transfer for Correction of Radial Deviation and Preservation of Long-term Growth". Clin Orthop Surg. 4 (1): 36–44. doi:10.4055/cios.2012.4.1.36. PMC   3288493 . PMID   22379554.
  7. ↑ Sestero AM, Van Heest A, Agel J (2006). "Ulnar growth patterns in radial longitudinal deficiency". J Hand Surg Am. 31 (6): 960–7. doi:10.1016/j.jhsa.2006.03.016. PMID   16843156.
  8. ↑ Manske PR, Goldfarb CA (2009). "Congenital failure of formation of the upper limb". Hand Clin. 25 (2): 157–70. doi:10.1016/j.hcl.2008.10.005. PMID   19380058.
  9. 1 2 Vilkki SK. (2008). "Vascularized metatarsophalangeal joint transfer for radial hypoplasia". Semin Plast Surg. 22 (3): 195–212. doi:10.1055/s-2008-1081403. PMC   2884879 . PMID   20567714.
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