1. Pediatric Limb Deficiency
Ramona M.Okumura, C.P./L.P.
Clinical Prosthetist
Senior Lecturer, Division of Prosthetics Orthotics
Department of Rehabilitation Medicine
School of Medicine
University of Washington

2. Introduction small number born with or acquiring a limb deficiency
vast majority have no known etiology
child’s changing developmental capabilities continuously alter the team treatment plan
must keep the doors open for long-term goals and yet provide for optimal functioning
successful outcome depends on treatment of the whole family
very pleasant clients which usually do very well in a healthy family unit

3. Objectives Be able to classify Limb Deficiencies
Identify particular management issues
Know how often to review the prescription as the child grows
Predict a functional outcome

4. Epidemiology Incidence estimated at 4 per 10,000 births
Congenital 60% to Acquired 40%
Male : Female
Congenital 1.2:1
Acquired 3:2
Left : Right
2:1 in unilateral UE Transverse Deficiency

5. Epidemiology Common presentations
Unilateral transverse deficiency of the forearm middle third

6. Epidemiology Common presentations
Unilateral conversion by ankle disarticulation for longitudinal fibular deficiency

7. Embryology Limbs form 4-7 weeks gestation
Proximal to distal in sequence
Upper limb develops slightly ahead of the lower limb
Simultaneously with organ development
Associated with Radial deficiency

8. Etiology of Congenital Deficiencies
Environmental
Genetic

9. Environmental Etiology
precise origin unknown in the majority of cases

10. Environmental Etiology
precise origin unknown
Speculate Vascular causes particularly some kind of Thromboembolism

11. Environmental Etiology
precise origin unknown
Speculate Vascular/Thromboembolism
Mechanical: Amniotic Bands or Streeter’s dysplasia in which multiple limbs are involved

12. Environmental Etiology
precise origin unknown
Speculate Vascular/Thromboembolism
Mechanical: Amniotic Bands
Maternal:
diabetes mellitus
intrauterine infection

13. Environmental Etiology
precise origin unknown
Speculate Vascular/Thromboembolism
Mechanical: Amniotic Bands
Maternal causes
Pharmaceutical:
Thalidomide only proven drug
Others suspected, no convincing evidence

14. Genetic Etiology
Chromosomal: ex. Turner’s syndrome XXX

15. Genetic Etiology Single Gene
Autosomal Dominant: Longitudinal tibial deficiency

16. Genetic Etiology Single Gene Autosomal Dominant
Autosomal Recessive: TAR Thrombocytopenia Absent Radius

17. Etiology of Acquired Deficiencies
Trauma 67% especially trains and lawn mowers

18. Etiology of Acquired Deficiencies
Disease 33% majority caused by malignancy, particularly years of age

19. Etiology of Acquired Deficiencies
Surgical conversion for congenital limb deficiency

20. Classification of Congenital Limb Deficiency
International Organization for Standardization (ISO)
restricted to skeletal radiological deficiency

21. ISO Classification of Congenital Limb Deficiency
Transverse deficiency:
no skeletal elements present distally
Name the level of the portion of the limb involved (Upper Arm)
State the portion where the absence occurs (“middle third” or “total”)

22. ISO Classification of Congenital Limb Deficiency
Left Transverse deficiency:
Forearm
middle third

23. ISO Classification of Congenital Limb Deficiency
Longitudinal deficiency:
skeletal elements present axially or distally
Name the bones involved
State partial or total absence

24. ISO Classification of Congenital Limb Deficiency
Right Longitudinal deficiency:
Fibula total
Tarsals partial
Rays 3,4,5 total

25. Frantz and O’Rahilly Classification Congenital Limb Deficiency
terminal or intercalary
transverse or paraxial
complete or incomplete
additional terms
amelia total absence of the limb involved
hemimelia partial absence of the limb involved
phocomelia absence of the long bones

26. Classification of Acquired Limb Deficiency
Through long bones
Upper Extremity
Transradial = Below Elbow (BE)
Transhumeral = Above Elbow (AE)
Lower Extremity
Transtibial = Below Knee (BK)
Transfemoral = Above Knee (AK)
Limb Salvage and Turnplasty (Van Ness)

27. Classification of Acquired Limb Deficiency
Through the joint:
Name the joint + “Disarticulation”
Upper Extremity: Wrist Disarticulation, etc.
Lower Extremity: Ankle Disarticulation, etc.

28. Clinical Principles Treatment goals
Healthy body image
Maintain choice for prosthetic options
Optimal function

29. Clinical Principles General considerations
Team approach
Developmental focus
Return appointments
3-4 months to eval prosthetic fit & function
Annually for team to assess developmental needs

30. Clinical Principles Psychosocial Support
Clients need to meet others with similar presentations
Guilt and associated familial problems
Give child control and decision making opportunities
Genetic counseling should be provided to both the child and parents

31. Clinical Principles Surgical Planning
Timing for congenital conversions

32. Clinical Principles Surgical Planning
Timing
Growth plate considerations

33. Clinical Principles Surgical Planning
Timing
Growth plate considerations
Overgrowth with long bone transections

34. Clinical Principles Surgical Planning
Timing
Growth plate considerations
Overgrowth
Planning for multiple surgical procedures

35. Clinical Principles OT and PT
When infants, we must train parents and caregivers
Children need minimal “training” instead need opportunity

36. Clinical Principles Prosthetic designs
Endoskeletal vs. exoskeletal
Flexible vs. rigid
Growth adjustable designs
Socks when applicable can allow for growth
For unilateral deficiencies, legs are used, but arms often rejected
Recreation

37. Clinical Principles LE Prosthetic Considerations
Wearing guidelines
Fit when pull the stand and cruising (9-12 months)

38. Clinical Principles LE Prosthetic Considerations
Foot/Ankle
Toddler gait
Lacks heel strike
Wide base of support

39. Clinical Principles LE Prosthetic Considerations
Child’s gait
more normal gait
benefit from dynamic foot/ankle

40. Clinical Principles LE Prosthetic Considerations
Knee
Toddler has fixed/locked knee
Some centers experimenting with a free knee

41. Clinical Principles LE Prosthetic Considerations
Knee
Toddler has fixed/locked knee
At 3 y.o. temporary reduction of Knee ROM while learning

42. Clinical Principles LE Prosthetic Considerations
Hip
uses alignment stability

43. Clinical Principles UE Prosthetic Considerations
Wearing guidelines
3 mos for supine grasp
“Fit when sit”
Best before 12 mos.
Common periods for rejection
Unilaterals functional without prosthesis, but more receptive learners than adults

44. Clinical Principles UE Prosthetic Considerations
Grasp
Passive as an infant for gross grasp

45. Clinical Principles UE Prosthetic Considerations
Grasp
Active when developmentally “ready” and able to “understand” grasping function (18-24 months)

46. Clinical Principles UE Prosthetic Considerations
Grasp
Electric switch control can provide active control at an earlier age

47. Clinical Principles UE Prosthetic Considerations
Elbow
Fixed for sitting balance as an infant

48. Clinical Principles UE Prosthetic Considerations
Elbow
Fixed as an infant
Passive friction for toddler
Active locking at 3 years old

49. Clinical Principles UE Prosthetic Considerations
High level
prosthetic function poor substitute
and often rejected

50. Special Case Discussion
Proximal Femoral Focal Deficiency (PFFD)
Aitken A or B

51. Special Case Discussion
Proximal Femoral Focal Deficiency (PFFD)
Aitken A or B
Aitken C or D

52. Special Case Discussion
Longitudinal fibular deficiency
Normal foot with stable ankle, centralization surgery
AFO
Shoe Lifts/Lengthening

53. Special Case Discussion
Longitudinal fibular deficiency
Abnormal foot
Ankle disarticulation conversion for a Prosthesis

54. Special Case Discussion
Septicemia/Purpura Fulminans
Skin management
Overgrowth

55. Special Case Discussion
Radial Deficiency
Associated pathologies
genetics

56. Special Case Discussion
Tibial Deficiency
Surgical conversion
genetics

57. Special Case Discussion
Bilateral upper extremity

58. Special Case Discussion
Bilateral upper extremity
Bilateral lower extremity

59. Special Case Discussion
High Level Quadramembral Deficiencies
FUNCTION