Transcript - Catalyst
Radial Longitudinal Deficiency Janelle Dubbins MD May 3, 2012 Radial Longitudinal Deficiency Spectrum of upper limb dysplasia and hypoplasia involving the thumb, wrist, forearm Ranges from mild thumb hypoplasia to complete absence of the radius Bony abnormalities most pronounced Deficiencies of the accompanying muscles, nerves, vessels, joints greatly influence function & surgical management Etiology & Embryology Etiology remains unknown Proposed insults to developing limb: Intrauterine compression Vascular insufficiency Environmental insults Maternal drug exposure Genetic mutations Upper limb develops in weeks 4-7 Starts at day 26 with appearance of limb bud Completed by day 47 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Apical ectodermal ridge Ectoderm Mesenchymal core Mesenchymal primordia of bones Digital ray Loose mesenchchyme Cartilaginous bone models Radius Humerus Ulna Carpus Coincides with the appearance of the cardiac, renal, and hematopoietic systems 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 510yo Autosomal recessive Thrombocytopenia & absent radius (TAR) Thrombocytopenia/anemia- at birth, improves during 1st year Absent radius with normal thumb Autosomal recessive Retrospective review 164 pts, 245 extremities 67% associated anomaly (n=110) 35% established syndrome (n=55) TAR (n=25) VACTERL (n=22) Hold-Oram (n=7) Fanconi anemia (n=1) Most common associated anomalies were cardiac The Journal of Hand Surgery. Vol 31A No 7. Sept 2006 Associated Conditions May occur in isolation, but frequently associated with other congenital malformations No correlation between severity of deformity and presence of associated syndrome or anomaly All children presenting with radial longitudinal deficiency require additional workup: Careful physical exam (cardiac auscultation, spinal exam) CBC Renal ultrasound ECHO Spine imaging Thumb Hypoplasia Grade I: Slight decrease in thumb size, slender phalanges and metacarpal Normal intrinsic muscles & distal radius Grade II: Smaller thumb, 1st web space contracture, lender phalanges and metacarpal Unstable MCPJ UCL, CMCJ instability Underdevelopment or absence of thenar muscles Grade III: Short thumb, severe 1st web space contracture Absence of proximal portion of 1st 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 Buck-Gramcko Classification Grade V: Complete absence of thumb Absent 1st dorsal interosseus in 50% Absent radial carpal bones & radial styloid Hypoplasia of distal radius Radial Longitudinal Deficiency Type I: Short radius (distal radial physis >2mm proximal to distal ulnar physis on PA wrist x-ray) Due to delayed appearance of the distal radial epiphysis Forearm straight, modestly shortened Sufficient bony support to the hand & carpus Type II: Grossly diminished radius Deficient growth of both the proximal and distal radial epiphyses Forearm is short Ulna is thick and bowed Hand is poorly supported, with radial displacement & angulation Type III: Partial absence of radius Deficiency may arise proximally, distally, or centrally Usually, proximal radius is present, providing support to elbow Ulna significantly bowed Type IV: Most common Complete absence of radius Ulna is bowed Marked radial and palmar displacement of the hand Pseudoarticulation between carpus & radial border of ulna Bayne & Klug Classification Initial Non-Surgical Management 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 Nonsurgical Management May be definitive in children with minimal deformity & stable joints 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 Surgical Management Goals: Optimize upper limb length Straighten forearm axis Reconstruct or ablate thumb Pollicize index finger Initial operation age 6-12 months Realign and stabilize the hand/carpus on the distal ulna 6 months later: Thumb reconstruction/ablation Complete all reconstruction by 18 months Allow child to achieve normal developmental milestones Surgical Management Wrist Realignment Thumb Reconstruction - Achieve deformity correction & stability - Opponensplasty to recreate pinch (tendon transfer) - Optimize growth, improve ROM, enhance function - Stabilization by reconstructing the UCL of the MCPJ - Preserve bony carpus & distal ulnar physis - Reconstruct 1st web space (Zplasty) - Often use soft-tissue distraction devices to diminish soft-tissue tension preop and avoid carpal bone deletion - Ablation and pollicization - May perform osteotomy of the bowed ulna at the apex of the deformity to achieve angular correction - Preferred in Grade IIIB-IV due to poor cerebrocortical representation of the thumb - Aesthetic reconstruction will not restore functional use to an ignored digit Summary Spectrum of disease from mild thumb hypoplasia to severe deformity of the upper extremity Commonly associated with other anomalies/syndromes All patients diagnosed with radial deficiencies require additional workup Surgical & non-surgical management strategies exist Goals of reconstruction: limb length, joint stability, preserve growth potential, creation of a functional thumb Good cosmesis does not guarantee good function