Radial club hand

radial club hand is described in this ppt

1. Radial club hand. B.Punithavasanthan , Fellow in Hand and microsurgery, SKIMS- srinagar

2. Classification by Swanson, Barsky , and Enti for congenital deformity ofhand

3. Failure of formation (arrest of development) Longitudinal deficiencies Transverse deficiencies

4. 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.

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

6. Radial club hand Radial club hand 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, Other terms that refer to the same condition are radial dysplasia, radial longitudinal deficiency, and radial ray deficiency

7. Factors. 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

8. Incidence ranges from 1 in 30,000 to 1 in 100,000. Ranges from 4.7% to 6.1% of all congenitalanomalies . Slightly more common in males than females Bilateral in 38 to 50 percent of cases. When unilateral, occurs twice as frequent on right side.

9. Clinically. 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. Thumb may be absent or severely deficient. Hand typically small,

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

11. ASSOCIATED SYNDROMES . Associated cardiac, hemopoietic , gastrointestinal, and renalabnormalities 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

12. Syndromes Commonly Associated with Radial Longitudinal Deficiency Syndrome Associated Conditions Inheritance Holt-Oram ASD Arrhythmias Upper limb abnormalities Autosomal dominant VACTERL V- vertebral anomalies A- anal atresia C- cardiac abnormalities TE- tracheoesophageal fistula R- renal agenesis L- limb defects Sporadic Fanconi anemia Pancytopenia- develops between 5-10yo Autosomal recessive Thrombocytopenia & absent radius (TAR) Thrombocytopenia/anemia- at birth, improves during 1 st year Absent radius with normal thumb Autosomal recessive

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

14. 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.. -Thumb always present A progressive pancytopenia May not progress until mid-childhood. Prognosis is poor Fanconi screen and chromosomal breakage test to screen treatment is bone marrow transplant

15. 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 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

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

17. -Approximately half of these patients also have cardiac defects. -Successful treatment of the associated abnormalities usually is possible

18. 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 despit significant deformity

19. Associated anatomical abnormalities. The scapula, clavicle, and humerus often are reduced in size, the ulna is characteristically short, thick, and curved, with any radial remnant. Total absence of the radius is most frequent, but in partial deficiencies the proximal end of the radius is present most often.

20. The scaphoid and trapezium are absent in more than half of these patients. 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.

21. 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.

22. Muscular abnormailties . The muscular anatomy always is deficient, although the deficiencies are highly variable. Muscles that frequently are normal are the triceps, ECU, ED, lumbricals , interossei (except for the first dorsal interossei ), hypothenar muscles.

23. The long head of the biceps is almost always absent, and the short head is hypoplastic . The brachioradialis is absent in nearly 50% of patients. ECRL & ECRB frequently are both absent or may be fused with the ED. PT often is absent or rudimentary, inserting into the intermuscular septum, PL often is defective. FDS usually is present and is abnormal more frequently than FDP.

24. The PQ, EPL, APL, and FPL muscles usually are absent 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

25. 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 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

26. 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.

27. Neurovascular abnormailites . median nerve is thicker than normal and runs alongthe preaxial border of the forearm just beneath the fascia. This nerve is at considerable risk during radial dissections because it is quite superficial. The ulnar nerve characteristically is normal. Radial nerve typically ends at lateral epicondyle after innervating triceps.

28. The vascular anatomy usually is represented by a normal brachial artery, a normal ulnar artery, a well-developed common interosseous artery, absent radial artery.

29. Thumb Hypoplasia Grade I: Slight decrease in thumb size, slender phalanges and metacarpal Normal intrinsic muscles&distal radius Grade II: Smaller thumb, 1 st web space contracture, lender phalanges and metacarpal Unstable MCPJ UCL, CMCJ instability Underdevelopment or absence of thenar muscles Grade III: Short thumb, severe 1 st web space contracture Absence of proximal portion of 1 st MC MCPJ often unstable Absence of thenar muscles Variable absence of trapezium, scaphoid , &radial styloid Grade IV: Distal midaxial origin of floating thumb “pouce flottant” Absent thenar & extrinsic thumb muscles Fully developed neurovascular pedicle Abnormal position of radial artery Variable absence of trapezium, scaphoid , &radial styloid Grade V: Complete absence of thumb Absent 1 st dorsal interosseus in 50% Absent radial carpal bones & radial styloid Hypoplasia of distal radius Buck- Gramcko Classification Grade I: Slight decrease in thumb size, slender phalanges and metacarpal Normal intrinsic muscles & distal radius Grade II: Smaller thumb, 1 st web space contracture, lender phalanges and metacarpal Unstable MCPJ UCL, CMCJ instability Underdevelopment or absence of thenar muscles Grade III: Short thumb, severe 1 st web space contracture Absence of proximal portion of 1 st MC MCPJ often unstable Absence of thenar muscles Variable absence of trapezium, scaphoid , & radial styloid Grade IV: Distal midaxial origin of floating thumb “ pouceflottant ” Absent thenar & extrinsic thumb muscles Fully developed neurovascular pedicle Abnormal position of radial artery Variable absence of trapezium, scaphoid , & radial styloid Grade V: Complete absence of thumb Absent 1 st dorsal interosseus in 50% Absent radial carpal bones & radial styloid Hypoplasia of distal radius

30. Heikel classification In type I (short distal radius) the distal radial physis is present but is delayed in appearance, the proximal radial physisis normal, the radius is only slightly shortened, and the ulna is not bowed

31. 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.

32. Type III deformity (partial absence of the radius) may be proximal, middle, or distal, with absence of the distal third being most common. thecarpus usually is radially deviated and unsupported, and the ulna is thickened and bowed.

33. 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, a shortened and bowed ulna

34. Modified bayne classification

35. All children presenting with radial longitudinal deficiency require additional workup: Careful physical exam (cardiac auscultation, spinal exam) CBC Renal ultrasound ECHO Spine imaging

36. Correct radial deviation of the wrist Balance the wrist on the forearm Maintain wrist and finger motion Promote growth of the forearm Improve function of the extremity Enhance limb appearance for social and emotional benefit The basic goals of treatment

37. Initial Non-Surgical Management May be definitive in children with minimal deformity & stable joints Serial splinting & stretching Initiated as early as is feasible. Lengthen the shortened radial soft tissues. Obtain passive correction of wrist deformity. Reduce the hand/carpus on the distal ulna & prevent radial contraction deformity. Serial exams Careful attention to elbow stiffness and/or contracture

38. Non operative management. 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. The hand and wrist are corrected first, and then the elbow is corrected as much as possible

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

40. Contraindications to surgical reconstruction: Older children with established patterns of functional compensation Mild deformities with good function & cosmesis Associated medical anomalies that preclude safe surgical reconstruction Severe bilateral elbow extension contractures in patients who rely on wrist flexion & radial deviation of the hand to reach the face

41. Goals: Optimize upper limb length (distraction) Straighten forearm axis (soft tissue distraction,centralization,radialization ????, ulnarization ????) Reconstruct or ablate thumb Pollicize index finger

42. Time line….. Realign and stabilize the hand/ carpus on the distal ulna at 3 to 6 months of age in children with inadequate radial support of the carpus …(may be postponed for 2 to 3 years with adequate splinting) 6 months later: Thumbreconstruction /ablation Complete all reconstruction by 18 months Allow child to achieve normal developmental milestones Plan ulnar lengthening later if indicated.. Age 6  10 years Two lengthenings (to prevent future ulnar growth problems) Before age 10 years --1 st lengthening 4-6 cm After age 10 years--2 nd lengthening 6-8 cm

43. Preliminary soft tissue distraction. Most helpful in older childrens ( >3 years) with untreated type 3 or 4 RLD.. If the wrist cannot be passively reduced preop Preliminary distraction is warranted before centralization is attempted.. Rigid deformities.

44. Centralization of Hand first reported in 1893 by Sayre indications good elbow motion and biceps function intact done at 6-12 months of age followed by tendon transfers should be able to passively reduce hand over ulna contraindications older patient with good function patients with elbow extension contracture who rely on radial deviation

45. Incisions. Z- plasties on radial and ulnar sides of wrist The lateral Z, and medial curved approaches. Dorsally or volarly ,,proximally based bilobed flap .

46. The identification and protection of subcutaneous dorsal branch of median nerve, isolation of the radial wrist extensor andflexor tendons laterally, and the exposure of the ulna head medially

47. The excision of medially based triangular piece, from the radiologically nonvisible head of the ulna.

48. The centralization, of the hand in about 10 degrees over correction, maintained by advancing the K. wire to penetrate the lateral volar cortex.

49. The redundant medial capsule tightened by augmentation or excision of excess tissue and repair. The ECU tendon tensed up as needed and the ECRL & ECRB tendon is tunneled medially to be fixed with ECU tendon, the FCR tendon if present, is tunneled dorso -medially to be fixed to and along the new axis of the ECR tendon

50. Then night bracing for 76 weeks more..

51. For Good results after centralization. : (1) adequate preoperative soft tissue stretching; (2) surgical goals should be obtained; (3) strict postoperative bracing; (4)able to reduce passively preop (5)< 3 year old , (6) Capsule tightening and excision of excess capsule.

52. 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, pin migration and breakage.

53. Ulnarization (Paley 1998) translated the carpals and the whole hand medial to the distal ulna. Converts head of ulna into a fulcrum due to radial pull of muscles

54. Expose FCU and pisiform and identify the ulnar nerve and vessels

55. Identify the cutaneous branch of the ulnar nerve which runs deep to the FCU.

56. Reflect the pisiform proximally and dissect out the radial side to look for an anlage .

57. If anlage or FCR found release and or resect .

58. Make a pocket for the ulnar head on the radial side of the carpus or thumb metacarpal.

59. Cut the capsule between the ulna and the carpus .

60. Stay on the carpus and do not strip the radial side of the ulna.

61. Side view: The ECU and EDM tendons are closely adherent to the ulnar head. They should be located and protected.

62. The carpus is passed to the ulnar side of the ulna ( ulnarization ).

63. An external fixator is applied to hold the wrist relative to the ulna. The fixator is lengthened to bring the hand into the correct position

64. Before and after the lengthening of the fixator pulling the wrist into the correct position.

65. 8 year followup

66. Ulnarization: Complications 2 skin necrosis treated by debridement and secondary closure

67. Conclusion safe no recurrences no growth arrest low complication rate improves grip strength active dorsiflexion improves activities of daily living improves cosmesis

68. Radialization

69. Lengthening of the Forearm for Radial Clubhand Age 6  10 years (Two lengthenings ) Before age 10 years --1 st lengthening 4-6 cm After age 10 years--2 nd lengthening 6-8 cm

70. Before vs After 1 st Lengthening vs Normal side before after normal X-ray comparison of lengthened forearm before and after lengthening and compared to normal side.

71. preop 1 st lengthening 8cm 2 nd lengthening 10cm Total length gain 18 cm 1st lengthening: 7cm 2nd lengthening: 10cm

72. Comparison of before and after lengthening of the left forearm.

73. 7 y.o . girl with rch and partial growth arrest 1 st Lengthening: 6cm Radial club hand with ulnar deformity secondary to centralization (top). Xray after lengthening and straightening of forearm (bottom).

74. before after

75. 2 nd Lengthening

76. Age 11  20+ years (one lengthening 8  12 cm)

77. Before lengthening (left); after lengthening (right)

78. Distal Ulnar Osteotomy Reorient Original Ulno Carpal Psuedo Joint

79. Recurrent deformity from previous centralization .

80. X-rays of distal ulnar osteotomy and gradual correction with TSF external fixator .

81. During distraction

82. Complications of Bone lengthening. Refractures Premature Consolidation Reoperation for Complications

83. Thumb reconstruction. Pollicization . The index finger must be kept  45-degrees of abduction and between 100 and 120-degrees of pronation for optimal function and appearance. Hyperextension instability at the index MCP 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 .

84. Results are better when pollicization was performed in the first year of life

85. 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 .

86. 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

87. Villki reported (2008) 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 New Procedure

88. Thank you