Radial club hand (Radial Dysplasia)

Radial Longitudinal Ray Dysplasia - Presentation

1. Radial Club Hand Dr Aiman Ali Resident Orthopaedic Surgeon – Year 5 Dept of Orthopaedics & Trauma Khyber Teaching Hospital Peshawar

2. Radial Club Hand Introduction : Malformations with failure of longitudinal formation of parts along the radial border of upper extremity Deficient thenar muscles Short / Absent thumb Short or absent Radius

3. Overview Epidemiology: 1 per 50,000 live births Bilateral in 50% cases Etiology: Unknown Genetic / Environmental factors Thalidomide use Disrupted development along the radioulnar axis 1/3 rd associated with syndrome and 2/3 rd have associated medical / musculoskeletal anomaly

4. Embryology Upper Limb Bud – 4 th to 8 th week Mesodermal cells covered by ectoderm Under the guidance of three signaling structures AER (Apical Ectodermal Ridge): Proximo-distal Growth ZPA (Zone of Polarizing Activity): AP Growth NRE (Non-Ridge ectoderm): Dorso -Ventral Growth

5. Swanson Classification

6. Transverse Deficiency Complete absence of parts distal to some point on the upper extremity: Amputation Like Stumps. Classified by naming the level at which the remaining stump terminates Upper third of forearm is the most common level

7. Longitudinal Deficiency All failure of formation anomalies that are not considered transverse eg Phocomelia, Radial longitudinal dysplasia, Ulnar longitudinal dysplasia

8. Heikel’s classification of RLD 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

9. 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.

10. 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.

11. 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.

12. 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.

13. Clinical Features:

14. Deformity: Radial deviation of hand with short forearm, present at birth Thumb may be absent or deficient Hand small MCP Joints with hyperextension & limited flexion Flexion contractures of PIP Elbow extension contracture

15. Clinical Manifestation: Musculoskeletal & Neurovascular Abnormalities Skeletal Abnormalities: Scapula, Clavicle & Humerus are often reduced in size Ulna may be short, curved or thickened Total absence of Radius more frequent, but in partial deficiencies, proximal portion of radius is often present Scaphoid and Trapezium absent in more than 50% cases Thumb including its metacarpal & Phalanges absent in 80% cases Capitate, Hammate , Triquetrum & four ulnar metacarpals & phalanges are present in almost all cases

16. The muscular anatomy always is variably deficient Muscles that frequently normal are the triceps, ECU, EDM, lumbricals, interossei (except first dorsal interossei), and hypothenar muscles The long head of the biceps is mostly absent, and short head is hypoplastic. The brachioradialis is absent in nearly 50% of patients. The ECRL & ECRB are frequently absent or may be fused with the EDC. PT either absent or rudimentary & inserted into intermuscular septum PL deficient FDS & FDP deficient PQ, EPL, APL, FPL are absent

17. 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

18. Neurovascular Abnormalities Anomalous Pattern: Median nerve thickened & it runs just beneath the fascia on pre-axial border Ulnar Nerve normal Musculocutaneous nerve absent Radial nerve ends at lateral epicondyle Normal Brachial & Ulnar artery But Absent Radial Artery

19. Associated Syndromes 25% cases of RLD are associated with Cardiac, Hematopoietic, GI , Renal syndromes

20. ASOCIATED S Y N DRO M ES 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.

21. A S S O C I AT E D 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

22. 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.

23. Associated syndrome s 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..

24. Autosomal dominant Thumb always present A progressive pancytopenia May not progress until mid-childhood. Prognosis is poor.

25. 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

26. 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

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

28. 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.

29. 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

30. Management of Radial Club Hand Work up : History , Examination, Xrays , Lab Investigation (CBC, Platelet Count) Rule out the associated syndromes Consider Non Operative management for all types during the first six months Consider Surgical treatment for Type III & Type IV (6-12 months)