Congenital and developmental anomalies.2560
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This document provides an overview of common congenital and developmental anomalies of the upper and lower limbs. It begins with terminology used to classify anomalies and then describes several common upper limb anomalies including polydactyly, syndactyly, trigger thumb, radial deficiencies, and radioulnar synostosis. For the lower limbs, it discusses developmental dysplasia of the hip, Legg-Calve-Perthes syndrome, slipped capital femoral epiphysis, congenital knee dislocations, tibial and fibular deficiencies, foot deformities, metatarsus adductus, calcaneovalgus, flatfoot, congenital vertical talus, tarsal coalition, and clubfoot. Treatment approaches are provided
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Congenital and developmental anomalies.2560
- 1. Congenital and Developmental Anomalies Ukris Gunadham, MD. FRCOST. Department of Orthopedics Trang Hospital Lecture for 5th year medical student
- 2. Objectives Terms and Classification Common upper limb anomalies Common lower limb anomalies
- 3. Terminology of Congenital Deficiency Amelia – complete absence Hemimelia, Meromelia – partial absence Terminal Intercalary Longitudinal Transverse
- 4. Frantz and O'Rahilly Classification
- 5. Frantz and O'Rahilly Classification
- 7. CLASSIFICATION (ASSH / IFSSH) 1. Failure of formation of parts (12.0%) 2. Failure of differentiation (31.3%) 3. Duplication (35.9%) 4. Overgrowth (0.5%) 5. Undergrowth (4.3%) 6. Constriction band syndrome (6.5%) 7. Generalized skeletal anomaly
- 8. Treatment of Congenital Upper Extremity Problems
- 10. Polydactyly Duplication error 1. Whole limb 2. Humeral segment 3. Radial segment 4. Ulnar segment (mirror hand) 5. Digit • radial or pre-axial • central • ulnar or post-axial
- 12. WASSEL’S CLASSIFICATION I II III IV V VI VII 2-6 % 12-18% 6-10% 43-53% 4-14% 3-6% 6-20% Thumb polydactyly
- 13. Treatment AIMS • SINGLE THUMB • COSMESIS • FUNCTIONS Principles 1. Bones alignment 2. Joints alignment 3. Joints stability 4. Soft tissue coverage 5. Functions
- 16. Syndactyly Failure of separation Inhibition of Physiological Cell Death X-ray to detect complex syndactyly Cosmesis & Function
- 19. Polysyndactyly
- 21. ???
- 22. Congenital Trigger Thumb Not same as adult trigger thumb / finger Stenosing tenosynovitis of FPL tendon Flexion contracture > Triggering of IP joint Flexor tendon nodule over the metacarpal head (Notta's nodule) DDx ◦ fracture or dislocation of the thumb ◦ congenital loss of the extensor tendon ◦ arthrogryposis or CP
- 23. Congenital Trigger Thumb 30% of children will recover spontaneously in 9-12 months * surgery if not resolved by 12 months of age
- 24. Congenital Deficiency of Radius “Radial Club Hand” differing degrees of shortening or absence Association ◦ VATER ◦ VACTERL ◦ Holt Oram syndrome ◦ TAR syndrome ◦ Fanconi's anemia Investigate associate anomalies - CBC + Plt count - Echocardiogram - Renal Ultrasound - UGI study
- 25. Congenital Deficiency of Radius Treatment options Passive stretching Centralization Pollicization Consider Function > Cosmesis
- 26. Congenital Deficiency of Ulna “Ulnar club hand” Rare condition Association ◦ clubfoot, fibular deficiencies, spina bifida, femoral agenesis, mandibular defects, and absence of the patella
- 27. Congenital Constriction Band Syndrome “Congenital ring syndrome” “Streeter dysplasia, annular grooves or defects, and intrauterine amputation” deep cutaneous creases encircle a limb (as if a string were tightly tied around the part)
- 28. Congenital Constriction Band Syndrome - most common distal limb portion index = middle = ring , less thumb and little - upper : lower extremity = 2 : 1 - incidence 1: 5,000 - 15,000 / M=F 4 DEFORMITY GROUPS 1. simple 2. fusion of distal bony part 3. fusion of soft tissue part 4. amputation
- 30. Radioulnar Synostosis Failure of complete division Usually involves the proximal Most often fixing the forearm in pronation More often bilateral than unilateral (60%) Mostly well function Surgery in severe pronation deformity
- 31. Congenital Muscular Torticollis Contracture of sterno- cleidomastoid fibrosis of sternal head muscle Palpable mass in first month 90% resolves in first year Mx: passive neck stretching Sx: after fail conservative 12-24 mo.
- 32. Congenital Muscular Torticollis Associated disorders: C 0-1-2 anomalies Congenital web syndrome DDH (20%) Metatarsus adductus plagiocephaly
- 35. Developmental Dysplasia of Hip Teratologic Typical ◦ Dislocated hip ◦ Dislocatable hip ◦ Subluxable hip Ligamentous laxity Acetabular dysplasia Malposition Mechanical factor Genetic factor Postnatal factor
- 36. Developmental Dysplasia of Hip Risk factors ◦ First born ◦ Breech position ◦ Female gender (6:1 over males) ◦ Positive family history ◦ Lower limb deformity ◦ Oligohydramnios ◦ Congenital muscular torticollis ◦ Metatarsus adductus ◦ Congenital knee dislocation ◦ Significant persistent hip asymmetry ◦ Significant musculoskeletal abnormalities
- 37. Developmental Dysplasia of Hip <3 months Barlow test Ortolani test Galeazzi sign ◦ apparent limb length discrepancy with hip and knee flexed at 90 degrees ◦ femur appears shortened on dislocated side Ultrasound for evaluate – up to 4 months
- 38. Diagnosis Physical exam during the first days of life Ortolani “Segno dello Scatto” Barlow Reduce the dislocated hip Subluxate or Dislocate the unstable hip
- 39. Ortolani to determine if the hip is dislocated Barlow provocative test for a dislocatable hip
- 40. DDH Treatment: < 6 months ◦ To obtain, maintain reduction provide hip joint development ◦ Pavlik Harness
- 41. Developmental Dysplasia of Hip >3 months limitations in hip abduction laxity resolves and stiffness occur decreased symmetrically in bilateral dislocations leg length discrepancy predominate >1 year (walking child) pelvic obliquity lumbar lordosis Trendelenburg gait toe walking
- 42. DDH diagnosed late Galeazzi‟s sign LLD Limit hip abduction* Asymmetrical skin fold Telescoping sign
- 43. DDH diagnosed late • 6m – 1y ; traction and hip spica • >2y ; surgery (acetabulum/femoral)
- 44. Legg-Calve-Perthes Syndrome Blood flow disruption: Thrombophilia (Factor V Leiden, Protein C, Protein S deficiency) Anticardiolipin Ab Phospholipid Ab Hypofibrinolysis (Plasminogen Activator) UNKNOWN!
- 46. Investigations Film both hips AP, frog legs* Bone scan MRI Arthrogram
- 47. Early phase Late phase
- 48. Perthes The first principle of treatment ◦ Restore ROM: bed rest, skin traction, progressive abduction, adductor release Primary goal of treatment ◦ Prevent deformity: no brace, surgery for containment
- 49. SCFE Related to ◦ Adolescent growth phase ◦ Endocrinopathy ◦ Renal osteodystrophy Bilateral 25% (50% sequential onset) Pathology: increase zone of hypertrophy Etiology: unknown
- 50. SCFE Pain at hip/groin Preslip: mild decrease hip IR coxalgic, ER gait or Trendelenburg gait „with more flexion, more ER‟ Chronic: pain > 3 weeks Acute on top: acute pain on top
- 51. SCFE Classification ◦ Stable ◦ Unstable – cannot bear weight Radiographs ◦ AP: Blanch sign of steel, Klein line ◦ Lateral cross-table ◦ Should avoid frogleg view
- 52. Klein line
- 53. SCFE : Treatment – Prevent further slippage: • single screw in situ – Reduce degree of slippage: • acute, hip extend & rotate to neutral within 24 hr of presentation • Osteotomy – Salvage procedure • Arthrodesis – Prophylactic pinning of contralateral hip • Metabolic/endocrine disorders
- 55. Congenital Knee Dislocation Positional contractures / rigid dislocation Structural components include ◦ quadricep tendon contracture ◦ anterior subluxation of hamstring tendon ◦ absent suprapatellar pouch ◦ tight collateral ligament Often occurs in children with ◦ myelomeningocele ◦ arthrogryposis ◦ Larsen's syndrome
- 56. Congenital Knee Dislocation Associated conditions ◦ developmental dysplasia of the hip 50% will have hip dysplasia affect one or both hips ◦ clubfoot, ◦ metatarsus adductus
- 57. Congenital Knee Dislocation Nonoperative treatment ◦ reduction with manual manipulation and casting long leg casting on weekly basis Operative treatment ◦ surgical soft tissue release Indications : failure to gain 30° of flexion after 3 months of casting goal of surgery is to obtain 90° of flexion quadriceps tendon lengthening anterior joint capsule release hamstring tendon posterior transposition collateral ligaments mobilization Postoperative : cast in 45 to 60° flexion for 3 to 4 weeks
- 58. Tibial deficiency shortening of the lower limb anterior tibial bowing tibial shortening knee varus ankle varus equinovarus foot, absence of rays, and tarsal coalition
- 59. Treatment Goal ◦ functional knee ◦ stable ankle joint ◦ plantigrade foot ◦ correct the limb length inequality
- 60. Fibular Deficiency Shortening of leg Anteromedial tibia bowing Tibial dimple Equinovalgus foot Absence of rays dimple
- 61. Knee valgus Ankle valgus, ball& socket or dome-shaped Tibial shortening. anteromedial bowing Equinovalgus Absent rays Hypoplasia Lateral tibial plateau Fibular Deficiency
- 62. Foot deformities
- 63. Terminology varus , valgus, calcaneal, equinus, adduction, abduction
- 64. Metatarsus Adductus Adduction of forefoot with normal hindfoot alignment associated conditions ◦ DDH (15-20%) ◦ Torticollis lateral foot border is convex instead of straight a medial soft-tissue crease indicates a more rigid deformity normal hindfoot and subtalar motion
- 66. Metatarsus Adductus Flexible deformities - observation or stretching; 90% to 95% will resolve spontaneously. For rigid deformities, serial manipulation and casting should be done before age 6 months. Surgery is rarely required, >age 3 years with a rigid deformity.
- 68. Calcaneovalgus
- 69. Calcaneovalgus mild form occurs in 30% to 40% incidence of this deformity is 0.4 to 1.0 in 1,000 live births the hindfoot ER and dorsiflexes most deformities will resolve spontaneously by age 3 to 6 months
- 70. Calcaneovalgus DDx: Congenital Vertical Talus Posteromedial tibial bow
- 71. Flatfoot Development 3 years old Flexible A weight-bearing foot shape ◦ hindfoot valgus ◦ midfoot sags ◦ Forefoot supination
- 72. Congenital Vertical Talus Hindfoot equinus, forefoot dorsiflex resulting in a midfoot dislocation through the talonavicular joint rigid deformity with a convex plantar surface that forms a rocker-bottom deformity Up to 60% of cases of CVT may be associated with arthrogryposis, myelomeningocele, sacral agenesis, or diastematomyelia Serial manipulation and casting
- 74. Tarsal coalition
- 76. Clubfoot (talipes equinovarus) Idiopathic deformity of the foot of unclear etiology Epidemiology most common birth defect 1:250 to 1:1000 more common in males half of cases are bilateral May be associated with ◦ hand anomalies ◦ diastrophic dwarfism ◦ arthrogryposis ◦ tibial hemimelia ◦ myelomeningocele
- 77. Clubfoot Talipes equinovarus 1-2 in 1,000 births. „CAVE‟ midfoot cavus, forefoot adductus and supination, hindfoot varus, and equinus
- 79. Clubfoot – Etiology Congenital / Idiopathic Pathologic ◦ arthrogryposis clubfoot ◦ myelomeningocele ◦ cerebral palsy (neuromuscular) clubfoot ◦ common peroneal nerve injury clubfoot
- 81. Clubfoot – Treatment 0-6 m serial manipulation and casting (Ponseti technique) 6m - 1y try Ponseti technique 1-4y soft-tissue release (posteromedial and posterolateral release) >5y soft-tissue release + bone work (osteotomy, triple arthrodesis, talectomy)
- 82. Ponseti Technique Professor Ignacio V. Ponseti (1914-2009)
- 84. Ponseti Method
- 85. Ponseti Method
- 86. Reflections Terms and Classification Common upper limb anomalies Common lower limb anomalies