Radial club handRadial club handRadial club handRadial club hand

Zameer aliZameer ali

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• Congenital malformations of the hand encompass a myriad of deformities, all of which carry different functional and cosmetic implications for the patient and parents

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• Classification by Swanson, Barsky, and Enti for congenital deformity of hand

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Failure of formation (arrest of development)

• Longitudinal deficiencies• Transverse deficiencies

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• Transverse deficiencies include those deformities in which there is complete absence of parts distal to some point on the upper extremity, producing amputation-like stumps that allow further classification by naming the level at which the remaining stump terminates

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LONGITUDINAL DEFICIENCIES

• Longitudinal deficiencies include all failure-of-formation anomalies that are not considered transverse deficiencies. e.g phocomelia, radial ray dysplasia, ulnar ray dysplasia, and central dysplasia.

• In the Iowa study these deformities constituted 9.3% of reported malformations, compared with the 7.1% incidence of transverse deficiencies.

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Radial club hand• Radial ray deficiencies include all

malformations with longitudinal failure of formation of parts along the preaxial or radial border of the upper extremity: deficient or absent thenar muscles, a shortened, unstable, or absent thumb, and a shortened or absent radius, commonly referred to as radial clubhand

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EPIDEMIOLOGY• Primary insult is to the apical ectodermal

ridge during critical limb development period. (between 4th and 7th weeks)

• Mostly due to environmental factors.– Compression– Inflammatory processes– Nutritional deficiency– Irradiation– Infection– Medications (especially thalidomide)

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• Results from a radial ray deficiency during embryological development.

• Incidence ranges from 1 in 30,000 to 1 in 100,000.

• Ranges from 4.7% to 6.1% of all congenital anomalies.

• Slightly more common in males than females and in caucasians.

• Bilateral in 38 to 50 percent of cases.• When unilateral, occurs twice as frequent on

right side.

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• Deformity is radial deviation of hand with a short forearm (50-75% the length of normal forearm).

• Almost always present at birth.• Prominent knob at distal end of

ulna.

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• No single definite implicating factors.• Genetic studies have failed to show any

genetic basis except when deformity is associated with a syndromal picture as in Holt-Oram, Fanconi’s, and TAR syndrome

• Interestingly, one study found that twice as many affected patients born during summer months than winter months.

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• Thumb may be absent or severely deficient.

• Hand typically small.

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• MCP joints with limited flexion and some hyperextensibility.

• May be flexion contractures of PIP joints.

• Elbow extension contracture common as a result of weak or absent elbow flexors.

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• The obvious deformity of a short forearm and radially deviated hand is almost invariably present at birth

• These conditions may occur as isolated deficiencies, but more commonly they occur to some degree in association with each other.

• Radial club hand occurs in an estimated 1 per 100,000 live births

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• when the deformity is unilateral, the right side is more commonly affected.

• Both sexes are equally affected.• Complete radial absence is more

common than partial absence.

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• In most cases of radial clubhand the cause is unknown, and the deformities are believed to occur sporadically

• In a study Wynne-Davies and Lamb found a higher proportion of a first-degree relative with minor congenital anomalies than would be expected from a random survey, which suggests a genetic contribution

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• The currently accepted and most useful classification of congenital radial dysplasias is a modification of that proposed by Heikel

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Heikel classification• In type I (short distal

radius) the distal radial physis is present but is delayed in appearance, the proximal radial physis is normal, the radius is only slightly shortened, and the ulna is not bowed.

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• In type II (hypoplastic radius) both distal and proximal radial physes are present but are delayed in appearance, which results in moderate shortening of the radius and thickening and bowing of the ulna. 21

Type III deformity• (partial absence of

the radius) may be proximal, middle, or distal, with absence of the distal third being most common; the carpus usually is radially deviated and unsupported, and the ulna is thickened and bowed.

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The type IV pattern• (total absence of the

radius) is the most common, with radial deviation of the carpus, palmar and proximal subluxation, frequent pseudoarticulation with the radial border of the distal ulna, and a shortened and bowed ulna.

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Heikel's classification of radial dysplasia

• A,Type I—short distal radius. • B, Type II—hypoplastic radius.• C, Type III—partial absence of

radius. • D, Type IV—total absence of

radius.

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• Variable degrees of thumb deficiencies are frequent with all patterns OF RADIAL CLUB HAND

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ASSOCIATED SYNDROMES

• . Associated cardiac, hemopoietic, gastrointestinal, and renal abnormalities occur in approximately 25% of patients with radial clubhand and may pose significant morbidity and mortality risks. The most frequently associated syndromes are Holt-Oram syndrome,

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Xray

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ASOCIATED SYNDROMES

• Fanconi anemia, thrombocytopenia– absent radius TAR syndrome,

• VATER syndrome, which consists of vertebral segmentation deficiencies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal abnormalities, and radial ray deficiencies.

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ASSOCIATED SYNDROMES

• In the Holt-Oram syndrome the cardiac abnormality (most commonly an atrial septal defect) requires surgical correction before any upper limb reconstruction measure is taken

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HOLT ORAM SYNDROME

• Cardiac defects most frequently seen are ASD, VSD, tetralogy of Fallot, mitral valve prolapse, PDA, total anomalous pulmonary venous return.

• Congenital heart defects required for diagnosis.

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Associated syndrome• Children with Fanconi anemia, a

pancytopenia of early childhood, have a very poor prognosis, and death usually occurs 2 to 3 years after onset of the disease..

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• Autosomal dominant• Thumb always present• A progressive pancytopenia• May not progress until mid-

childhood.• Prognosis is poor.

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Associated syndrome• In TAR syndrome • thrombocytopenia usually resolves

by the age of 4 to 5 years and, although it may delay reconstruction, but is not a contraindication to surgical treatment

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TAR SYNDROME• Thumb is always present and

radial deficiency is bilateral.• Autosomal recessive mode of

inheritance.• Typically, prognosis is good and

platelet count improves to normal by age 4 to 5

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• Always check platelet count in child with Radial clubhand and a thumb prior to entertaining surgery.

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Associated syndrome• Approximately half of these patients

also have cardiac defects. Successful treatment of the associated abnormalities usually is possible, and upper extremity reconstruction may be appropriate in selected patients.

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Associated syndrome• Radial deficiency also is

associated with trisomy 13 and trisomy 18; these children have multiple congenital defects and mental deficiency that may make reconstruction inappropriate despite significant deformity

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Anatomical abnormalities of congenital absence of

the radius• The scapula, clavicle, and

humerus often are reduced in size, • the ulna is characteristically short,

thick, and curved, with any radial remnant.

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Anatomical abnormalities

• Total absence of the radius is most frequent, but in partial deficiencies the proximal end of the radius is present most often.

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Anatomical abnormalities

• The scaphoid and trapezium are absent in more than half of these patients; the lunate, trapezoid, and pisiform are deficient in 10%;

• the thumb, including the metacarpal and its phalanges, is absent in more than 80%, although a rudimentary thumb is not uncommon.

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Anatomical abnormalities

• The capitate, hamate, triquetrum, and the ulnar four metacarpals and phalanges are the only bones of the upper extremity that are present and free from deficiencies in nearly all patients.

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Anatomical abnormalities

• The muscular anatomy always is deficient, although the deficiencies are highly variable. Muscles that frequently are normal are the triceps, extensor carpi ulnaris, extensor digiti quinti proprius, lumbricals, interossei (except for the first dorsal interossei), and hypothenar muscles.

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Anatomical abnormalities

• The long head of the biceps is almost always absent, and the short head is hypoplastic. The brachialis often is deficient or absent as well

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Anatomical abnormalities

• The brachioradialis is absent in nearly 50% of patients. The extensors carpi radialis longus and brevis frequently are both absent or may be fused with the extensor digitorum communis.

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Anatomical abnormalities

• The pronator teres often is absent or rudimentary, inserting into the intermuscular septum, and the palmaris longus often is defective. The flexor digitorum superficialis usually is present and is abnormal more frequently than is the flexor digitorum profundus

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Anatomical abnormalities

• The pronator quadratus, extensor pollicis longus, abductor pollicis longus, and flexor pollicis longus muscles usually are absent

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IN SUMMARY• Preaxial musculature from lateral

epicondyle most severely affected.• Radial wrist extensors (ECRL, ECRB and

BR either absent or severely deficient.• Finger extensors usually present.• Long head of biceps almost always

absent. Short head typically hypoplastic.• Brachialis deficient or absent

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Neurovascular abnormality

• . The peripheral nerves generally have an anomalous pattern, with the median nerve being the most clinically significant. The nerve is thicker than normal and runs along the preaxial border of the forearm just beneath the fascia.

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Neurovascular abnormality

• This nerve is at considerable risk during radial dissections because it is quite superficial

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Neurovascular abnormality

• The ulnar nerve characteristically is normal according to most authors, and the musculocutaneous nerve usually is absent. The vascular anatomy usually is represented by a normal brachial artery, a normal ulnar artery, a well-developed common interosseous artery, and an absent radial artery.

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• Median nerve thickened and runs just below fascia. At risk for injury during surgical dissection along concavity of deformity.

• Radial nerve typically ends at lateral epicondyle after innervating triceps.

• Ulnar nerve normal.• MC nerve absent.

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• . The forearm is between 50% and 75% of the length of the contralateral forearm, a ratio that usually remains the same throughout periods of growth

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• . The thumb characteristically is absent or severely deficient;

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• Flexion contractures often occur in the proximal interphalangeal joints. Stiffness of the elbow in extension, probably the result of weak elbow flexors, frequently is associated with a radial clubhand

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• Most authors emphasize the elbow extension contracture as an extremely important consideration in evaluating these patients for reconstruction. Because of the radial deviation of the hand, the child usually can reach the mouth without elbow flexion.

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• . Lamb found that unilateral involvement did not significantly affect the activities of daily living, but bilateral involvement reduced activities by one third.

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• Associated cardiac or hematological problems may worsen the overall prognosis.

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Management of radial club hand

• Operative treatment• Non operative treatment

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Non operative Non operative managementmanagement

Non operative Non operative managementmanagement

Radial club handRadial club hand

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• Immediately after birth the radial clubhand often can be corrected passively, and early casting and splinting generally are recommended .

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• All treatment should begin at birth and should consist of manipulation and serial splinting/casting into corrected position.

• Should be done with a well-padded long arm cast with arm gently placed into flexion and hand in maximal correctable position.

• Cast on two weeks, then off with 1 week stretching/manipulation, then new cast x 2 weeks.

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• A light, molded plastic, short arm splint is applied along the radial side of the forearm and is removed only for bathing until the infant begins to use the hands; then the splint is worn only during sleep.

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• . Riordan recommended applying a long arm corrective cast as soon after birth as possible. The cast is applied in three stages by means of a technique similar to that used for clubfoot casting (ponsetti casting) The hand and wrist are corrected first, and then the elbow is corrected as much as possible

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• Milford concluded that casting and splinting in a child younger than 3 months of age often is impractical.

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• Lamb reported that elbow extension contracture can be improved by splinting the hand and wrist in neutral position; 20 of his 27 patients improved to 90 degrees. He also cautioned that elbow flexion never improves after centralization procedures.

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• There is no satisfactory conservative therapy for the significant thumb deformities associated with radial clubhand

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Operative Operative TreatmentTreatmentOperative Operative TreatmentTreatment

Radial club handRadial club hand

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Operative Treatment• centralization of the carpus on the

forearm,• thumb reconstruction,• and occasionally transfer of the

triceps to restore elbow flexion

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• Although surgery may be postponed for 2 to 3 years with adequate splinting, there is general agreement favoring operative correction at 3 to 6 months of age in children with inadequate radial support of the carpus.

• Pollicization, when indicated, follows at 9 to 12 months of age if possible.

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• contraindications to operative treatment include severe associated anomalies not compatible with long life,

• inadequate elbow flexion,• mild deformity with adequate radial

support (type I and some type II deformities),

• older patients who have accepted the deformities and have adjusted accordingly

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Centralization of Hand

• Centralization of the hand over the distal ulna was first reported in 1893 by Sayre, who suggested sharpening the distal end of the ulna to fit into a surgically created carpal notch.

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Techniques• Centralization arthroplasty

technique, transverse ulnar approach.

• A, Incision. • B, Exposure of muscle,

tendon, and nerve. • C, Capsular incision. • D, Exposure of carpoulnar

junction and excision of segment of carpal bones.

• E, Insertion of Kirschner wire.

• F, Reattachment of extensor carpi ulnaris tendon.

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Techniques• Centralization of radial clubhand.• A, Z-plasties on radial and ulnar

sides of wrist. • B, Incisions allow lengthening on

radial side. Ulnar incision takes up skin redundancy, transposing it to deficient radial side.

• C, Radial incision in wrist for identification of median nerve.

• D, View from ulnar incision across wrist to radial incision after resection of all nonessential central structures.

• E, Distal ulna seen through radial incision at wrist.

• F, Kirschner wire passed through lunate, capitate, and long finger metacarpal.

• G, After centralization, Kirschner wire passed into ulna to maintain position

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Techniques• Centralization of radial clubhand.• A, Z-plasties on radial and ulnar

sides of wrist. • B, Incisions allow lengthening on

radial side. Ulnar incision takes up skin redundancy, transposing it to deficient radial side.

• C, Radial incision in wrist for identification of median nerve.

• D, View from ulnar incision across wrist to radial incision after resection of all nonessential central structures.

• E, Distal ulna seen through radial incision at wrist.

• F, Kirschner wire passed through lunate, capitate, and long finger metacarpal.

• G, After centralization, Kirschner wire passed into ulna to maintain position

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• Lidge modified this method by leaving the ulnar epiphysis intact, providing the forerunner of modern centralization techniques.

• Other procedures have been performed in an attempt to stabilize the hand on the forearm.

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• Bardenheuer in 1894 suggested splitting the distal ulna longitudinally to allow the carpus to become wedged between the two halves.

• Albee in 1919 attempted to create a radius with a free tibial graft.

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• Starr in 1945 and Riordan in 1955 used a nonvascularized fibular graft to support the carpus, but fibular growth did not continue and the deformity recurred

• . DeLorme in 1969 suggested intramedullary fixation of the carpus on the ulna.

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• Centralization has been shown to improve function, particularly in bilateral involvement. Bora et al. reported total active digital motion of 54% of normal after surgery, compared with 27% in untreated patients. Forearm length was functionally doubled, and the metacarpal-ulnar angle averaged 35 degrees after surgery, compared with 100 degrees in untreated patients.

• Tsuyuguchi et al., however, reported that only 6 of their 12 patients were satisfied with the results despite obvious functional gains

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• . Bayne and Klug reported that 52 of 53 patients believed that cosmesis and function had been improved by centralization.

• Good results had the following factors in common: (1) all had adequate preoperative soft tissue stretching; (2) surgical goals were obtained; (3) there were no problems with postoperative bracing; (4) most had less severe soft tissue contractures; and (5) most were younger than 3 years of age at the time of centralization.

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Complications of centralization include

• growth arrest of the distal ulna, • ankylosis of the wrist,• recurrent instability of the wrist,• damage to neural structures (particularly

the anomalous median nerve),• vascular insufficiency of the hand, • wound infection, necrosis of wound

margins, fracture of the ulna, and pin migration and breakage.

• Major neurovascular complications are rare.

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AFTERTREATMENT.• The hand is elevated for 24 to 48 hours.

The dressing is changed and sutures are removed 2 weeks after surgery. A long arm cast is applied and worn for an additional 4 weeks. The Kirschner wire is removed at 6 weeks, and a short arm cast is applied to be worn for an additional 3 weeks. Night splinting is continued until physeal closure to avoid recurrence of radial deviation.

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Centralization of Hand and Tendon

Transfers• Bora et al. suggested that treatment be

started immediately after birth with corrective casts to stretch the radial side of the wrist. When the patient is between 6 to 12 months old the hand is centralized surgically over the distal end of the ulna, and tendon transfers are carried out 6 to 12 months later

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• ) three tendon transfers are performed 6 to 12 months after the centralization procedure. Before attempting to transfer the flexor digitorum sublimis tendons, test for function, because in some instances the sublimis tendon is nonfunctioning in one or more of the three ulnar digits. Passively maintain the metacarpophalangeal joints and the wrist joint in hyperextension and the interphalangeal joints in extension, and release one finger at a time.

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• AFTERTREATMENT. A cast is applied after the procedure and is worn for 1 month; after this a night splint is worn for at least 3 months. Careful follow-up should be made to observe for possible recurrence of deformity. A night splint can be used for several years.

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Pollicization for Reconstruction of Thumb with Radial

Clubhand

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• Although the thumb frequently is absent or severely deficient in radial dysplasia, children usually are able to adapt to the thumbless hand with ulnar-side-of-index-to-radial-side-of-middle finger prehension and finger-to-palm prehension after centralization. Despite this adaptability, overall function and self-care activities are impaired and can be improved with successful pollicization.

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• Because normal as well as compensatory prehensile patterns are firmly established within the first year of life, it is desirable that surgical reconstruction be performed early. Pollicization is recommended for both unilateral and bilateral cases. If a "floating" thumb deformity is present, with inadequate musculotendinous and bony elements, the remnant should be amputated before pollicization to allow reconstruction of a stable thumb..

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• Gosettin 1949 was the first to report replacement of the thumb with the index finger, and the index finger continues to be the preferred donor digit if it is not too deficient. Despite reports of successful single-stage toe-to-hand transfers, in the congenitally deficient thumb the index is preferred because the appearance is more acceptable and there is less donor site morbidity

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• Buck-Gramcko reported that results were better when pollicization was performed in the first year of life; his youngest patient was 11 weeks old. Side-to-side grip between index and middle fingers, particularly for smaller objects, persisted in children whose reconstruction was performed later in life

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• Buck-Gramcko reported that results were better when pollicization was performed in the first year of life;

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• Side-to-side grip between index and middle fingers, particularly for smaller objects, persisted in children whose reconstruction was performed later in life.

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• The index finger must be rotated 160 degrees and placed in 40 degrees of palmar abduction for optimal function and appearance. Hyperextension instability at the index metacarpophalangeal joint is prevented by positioning the metacarpal head in 70 to 80 degrees of hyperextension before fixation. The reattached intrinsic muscles are important in the function of the thumb and in the formation of a new thenar eminence for cosmesis

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AFTERTREATMENT.• The hand is immobilized for 3

weeks, and then careful active motion is begun.

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Opponensplasty

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• Abductor digiti minimi opponensplasty, as described by Huber, may be appropriate for the rare patient with only isolated thenar aplasia in association with the radial clubhand or for patients with weakness in apposition after pollicization. Manske and McCarroll reported improvement in appearance, dexterity, strength, and usefulness of the thumb in 20 of 21 patients with an average age at operation of 4 years and 9 months.

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Triceps Transfer to Restore Elbow Flexion

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• An elbow stiff in extension is a contraindication to centralization; rarely, however, a child may have passive elbow flexion but minimal or no active flexion because of complete absence of elbow flexors. Menelaus reported that triceps transfer restored elbow flexion in two patients when performed 2 to 3 months after centralization; both patients improved from a preoperative passive range of motion of 0 to 45 degrees to a postoperative active range of motion of 0 to 90 degrees

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SUMMARY• Always be mindful of associated syndromal

patterns and concomitant medical problems when approaching radial clubhand deformity.

• Set reasonable treatment goals and counsel families on reasonable expectations.

• Know that elbow flexion typically does not improve after surgery, so it is imperative to address this pre-op in order to maintain ADLs.

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Thank You…

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