1. Pediatric Limb Deficiencies
23rd Annual Prosthetics Course
Deborah Mowery, MD

2. Following this lecture you will be able to:
Objectives
Following this lecture you will be able to:
Identify major etiologies of congenital and acquired pediatric limb deficiencies.
Classify limb deficiencies.
Determine when it is appropriate to fit a pediatric patient with a prosthesis and which prosthetic device is developmentally appropriate for a pediatric amputee.
List common causes of acquired pediatric amputation and possible surgical management techniques.
Discuss the family approach and functional outcome in pediatric amputee.

3. Congenital Limb Deficiencies

4. * 40% congenital deficiencies = left transverse radial
Incidence
Congenital 60%
Acquired 40%
per 10,000 live births
6% of all birth defects
Upper > Lower Limb (2:1)
Unilateral upper limb – 50%
Unilateral lower limb – 27%
Multiple limbs – 24%
* 40% congenital deficiencies =
left transverse radial
Left: Right
2:1 in unilateral UE Transverse Deficiency
Acquired: 12% <21 years
5% <11 years

5. Etiology - Congenital Failure of formation of part or all of limb bud
Proximal to distal limb development

6. Etiology - Congenital Mesodermal formation of the limb bud:
26 days - 8 weeks gestation
Upper limb develops slightly ahead of lower limb

7. Prenatal vitamins = ↓ risk
Etiology - Congenital
Unknown?
Vascular
Genetic syndromes
Teratogens
Thalidomide – only known
Smoking – digit abnormalities?
Valproic acid, Ca++ channel blockers
Maternal
Diabetes, including gestational diabetes
Intrauterine infection
Mechanical factors
Uterine abnormalities
Amniotic band syndrome
Prenatal vitamins = ↓ risk
Pediatric Rehabilitation Principles and Practice, Forth Edition, alexander, Michael A., Matthews, Dennis J. Demos Medical,
New York, 2010:

8. Terminology
Amelia - Complete absence of a free limb (exclusive of girdle).
Meromelia - Partial absence of a free limb (exclusive of girdle).
Terminal Deficiency - Absence of all skeletal elements distal to the proximal limit of the deficiency, along the designated axis (longitudinal or transverse).
Intercalary Deficiency - Absence of middle part(s) lying between a proximal-distal series of limb components; elements proximal to and distal to the absent part(s) are present.
Transverse - Absence extending across the width of the limb.
Longitudinal - Absence extending parallel with the long axis of the limb (forearm and/or hand, or leg and/or foot), either pre-axial, postaxial, or (as in the hand or foot) central in nature.

9. Terminology
Pre-axial - Absence of the portion of the fore- arm and/or hand, or leg and/or foot on the thumb or the great-toe side of the limb (radial or tibial portion).
Postaxial - Absence of the portion of the fore- arm and/or hand, or leg and/or foot on the side of the limb opposite the thumb or the great toe (ulnar or fibular portion).
Ray - A digit.
Central - Absence of one or more of the intermediate digital rays (for example, Ray III).
Rudimentary - A remnant of an osseous element. If the remnant is identifiable (for example, the humerus), the term "rudimentary humerus" would be applicable. If the remnant cannot be identified, the symbol "X" (unknown) would be cited (i.e., "rudimentary X").

10. Terminology – Frantz and O’Rahilly
O'Rahilly, Ronan, Morphological patterns in limb deficiencies and duplications, Am. J. Anat., Philadelphia, 89: , September 1951.

11. Terminology – ISPO/ISO
Transverse Deficiencies
Prosthetics and Orthotics International, 1991, 15, 67-69
The ISO/ISPO classification of congenital limb deficiency
H. J. B. DAY
Formerly of Disablement Services Centre, Withington Hospital, Manchester, UK
International Organization for Standardization - Restricted to skeletal radiological deficiency

12. Terminology – ISPO/ISO
Longitudinal Deficiencies
UPPER
LOWER

13. Syndromes Holt Oram Syndrome (AD) Fanconi Pancytopenia Syndrome (AR)
TAR Syndrome (AR)
EEC Syndrome (AD)
VACTERL Association (sporadic)
Trisomies (13, 18)

14. (Cardiac-Limb Syndrome)
Syndromes
Holt Oram Syndrome
(Cardiac-Limb Syndrome)
Limb:
wrist (carpal bones) abnormalities
missing thumb or long thumb that looks like a finger
partial or complete absence of bones in the forearm
underdeveloped bone of the upper arm
abnormalities of the collar bone or shoulder
affect one or both of the upper limbs
left side is usually more severely affected than the right sidez
Cardiac:
ASD
VSD
Conduction abnormalities

15. Fanconi Pancytopenia Syndrome
Syndromes
Fanconi Pancytopenia Syndrome
Radial Abnormalities
Pancytopenia
Skin hypopigmentation or café-au-lait spots
Short stature
Malformed or absent kidneys
Defects of the urinary tract
Gastrointestinal abnormalities
Eye abnormalities
small or abnormally shaped eyes
Malformed ears and hearing loss
Malformations of the reproductive system
Abnormalities of the brain and spinal cord
hydrocephalus or microcephaly
Heart defects

16. (Thrombocytopenia – Absent Radius Syndrome)
Syndromes
TAR Syndrome
(Thrombocytopenia – Absent Radius Syndrome)
Autosomal recessive
Radial Aplasia
Thumbs present!
Thrombocytopenia with risk for ICH within first year
Short stature and additional skeletal abnormalities
Underdevelopment of other bones in the arms and
Heart and kidney defects
micrognathia, prominent forehead, and low-set ears
Cow's milk allergy

17. (Ectrodactyly–ectodermal dysplasia–cleft syndrome)
Syndromes
EEC Syndrome
(Ectrodactyly–ectodermal dysplasia–cleft syndrome)
Radial Aplasia
Thumbs present!
Thrombocytopenia with risk for ICH within first year
Short stature and additional skeletal abnormalities
Underdevelopment of other bones in the arms and
Heart and kidney defects
micrognathia, prominent forehead, and low-set ears
Cow's milk allergy

18. Syndromes VACTERL Association V = Vertebral/vascular
A = Anal malformations
C = Cardiac
TE = Tracheoesophageal fistula/
esophageal atresia
R = Renal anomalies
L = Limb anomalies (radial)

19. Proximal Femoral Focal Deficiency
PFFD
Proximal Femoral Focal Deficiency
Clinical Presentation:
–Shorter lower limb (above knee)
–Knee non-existent or in proximal position
–Usually normal foot
Spectrum may include:
–Lack of integrity, stability and mobility of hip and knee joints
–Bone malorientation, bone malrotation
–Soft tissue contractures of the hip and knee

20. Proximal Femoral Focal Deficiency
PFFD
Proximal Femoral Focal Deficiency
Goal:
Limb Equalization
Options:
Lifts
Prosthesis

21. Proximal Femoral Focal Deficiency
PFFD
Proximal Femoral Focal Deficiency
Creative solutions!!
Goal:
Limb Equalization
Options:
Lifts
Prosthesis

22. PFFD Proximal Femoral Focal Deficiency Van Ness Rotationplasty
Femur rotated
Ankle = knee joint
Weight-bearing on foot
Toes can provide
sensory feedback
Can be used with osteosarcoma with partial amputation of lower leg above the knee.
Rotation of lower limb with fusion of tibia with proximal femur
More common in Canada where Dr. Van Ness was from.

23. Longitudinal Fibular Deficiency
Fibular Hemimelia
Longitudinal Fibular Deficiency
Clinical presentation:
Shorter limb (below knee)
Frequently with foot deformity
Possible ankle and knee instability

24. Longitudinal Fibular Deficiency
Fibular Hemimelia
Longitudinal Fibular Deficiency
Associated deformities:
foot ray deficiency
sub-talar coalition
ball and socket ankle joint
ankle joint malorientation
diaphyseal angular deformity apex anteromedial
congenital shortening of the tibia
femoral malformation (coxa vara, PFFD,…)

25. Treatment Physicians – Ortho, PM&R Prosthetist PT/OT Social Worker
Team Approach
Physicians – Ortho, PM&R
Prosthetist
PT/OT
Social Worker
Nurse Coordinator

26. Treatment Healthy body image Maintain choice for prosthetic options
Goals
Healthy body image
Maintain choice for prosthetic options
Patient and family acceptance
OPTIMAL FUNCTION

27. Treatment Biomechanical Losses Upper Limb Lower Limb
Loss of prehension (varied)
Inequality of arm lengths
Malrotation
Inadequacy of proximal and distal musculature
Instability of proximal joints
Also loss of sensory function
Prosthesis = mechanical tool
Exposed skin of deficient limb may be preferable to encased limb
Lower Limb
Inequality of leg lengths
Malrotation
Inadequacy of proximal musculature
Instability of proximal joints

28. Treatment Healthy body image Maintain choice for prosthetic options
Goals
Healthy body image
Maintain choice for prosthetic options
Patient and family acceptance
OPTIMAL FUNCTION

29. Treatment Goals Factors for Prosthetic Acceptance by Children
Parent Acceptance
Age of fit (UE <2 years old)
Level of amputation
Increase in function
Upper vs. Lower extremity

30. Surgical Management Principles
Treatment
Surgical Management Principles
Preserve length
Preserve epiphyses/growth plates
Disarticulation rather than Transosseous amputation
Preserve epiphyseal growth plates and ensure longitudinal growth
Avoids terminal overgrowth of bone
Longer lever arm maintained
Enhance suspension and rotational control in prosthesis
Improve tolerance of distal weight-bearing
Preserve knee joint whenever possible
Stabilize and normalize proximal portions of limb
For example the distal epiphysis is the major source of growth for femur (70%), so disarticulation is preferred over transfemoral amputation.

31. Developmental Milestones
Prosthesis
Developmental Milestones

32. Developmental Milestones – Upper Extremity Readiness
Prosthesis
Developmental Milestones – Upper Extremity Readiness

33. Fitting Timetable: Upper Extremity
Prosthesis
Fitting Timetable: Upper Extremity
Passive prosthesis months
Active control of terminal device >12-15 mos
Active control of elbow yrs
Myoelectrics yrs
single site control if <3 yrs
2-site control if ≥ 3 yrs
Early prosthetic fitting designed to encourage bimanual tasks, establish a wearing pattern, increase overall independence, provide for symmetrical crawling and reduce “stump dependence” – sensory dependence on the end of the residual limb. There is a narrow window of opportunity for prosthetic acceptance with UE limb deficiency within the first 2 years to encourage bilateral hand use.

34. Fitting Timetable: Lower Extremity
Prosthesis
Fitting Timetable: Lower Extremity
Fit when pulling to stand mos
Knee joint when climbing stairs yrs
Toddler gait:
Wide based, hip flexion and abduction, knee flexion, total foot initial contact = no knee component
Limits for prosthetic acceptance with high levels of amputation such as hip disarticulation and hemipelvectomy.

35. Considerations in Pediatric Prosthetic Rx
Prosthesis
Considerations in Pediatric Prosthetic Rx
Developmental Stage/Readiness
Growth
Durability
Comfort
Weight
Cosmesis
Simplicity in construction and in requirements for operation
COST – 3D printing of prosthetic limbs

36. Prosthesis Replacement for Growth
Evaluate every 3-6 months through adolescence:
Possible adjustments to socket/harness for fit/alignment.

37. Prosthetic modifications for Growth
Prosthesis
Prosthetic modifications for Growth
Socket:
Double walled with removable growth liner
Thick elastomeric liner with decreased thickness of liner with growth
Socks
Pylon:
Replace for length in prosthesis with otherwise good fit/function
Knee, foot-ankle units:
Re-use components