collective data for all the pseudoarthrosis of long bones.

1. PRESENTER : DR VENKATESH V
MODERATOR : DR SATHEESH G S
CONGENITAL
PSEUDOARTHROSIS

2. Definition :
pseu·dar·thro·sis:
A pathologic entity characterized by deossification of a weight-
bearing long bone, followed by bending and pathologic fracture,
with inability to form normal callus; this leads to existence of the
“false joint”
characterized by osseous dysplasia and segmental weakness of bone
resulting in anterolateral angulations of tibia with pathological fracture
with lack of bone union
INTRODUCTION :

3. CPT is rare & Usually develops in first 2 yrs of life.
• Etiology is unclear.
• Incidence is 1: 250,000
• There is a strong association of CPT with neurofibromatosis
type 1
CONTD…

4. • 1891: Paget one of the first describe a case of CPT
• 1903: codivilla performed a lengthening through a femoral
osteotomy followed by gradually calcaneal traction and
casting
• 1921: Putti lengthened the femur using distal traction
and proximal counter traction followed by nail inserted in
the femur
HISTORY :

5. • 1937: ducroquet and cottard describe association of
CPT with neurofibromatosis
• 1951: Mc farland suggeted bone bypass graft
• 1961: G.A. Ilizarow discovered that slow distraction of
a corticotomy through a process called distraction
osteogenesis could produce new bone in widening
distraction gap
CONTD ..,

6. • 1956: charney treated CPT with intra medulary nail
• 1982: boyd classified CPT
• 1985: pho et all describes efficiency of vascularised fibular
graft

7. 1. UNKNOWN etiology
2. 40 % of patient present with typical of neurofibromatosis or von
Recklinghausen’s
3. A possible relationship of neurofibromatosis,fibrous dysplasia
and CPT is suggested
4. Robert L & shaw reported that the NF lesions are absent at
the birth but are developed late in life.
ETIOLOGY:

8. Divided into 2 types :
NF1 :multisytem involvement
NF2 :mainly involves neural tissues
NEUROFIBROMATOSIS

9. 1. NF-1 occurs due to mutation on the gene coding for
NEUROFIBROMIN on chromosome 17
2. It negatively regulates Ras activity ( cell proliferation &
function)
3. It’s deficiency leads to increased Ras activity.
4. Affects Ras-dependent MAPK( mitogen activated protein
kinase) activity which is essential for osteoclast function &
survival
NEUROFIBROMATOSIS I

10. CLINICAL FEATURES OF NF 1
Always look for HALLMARK signs of
NF
1. Café au lait spots
2. Skin nodules.

11. 1. 6 or more café-au-lait macules (>5mm before puberty &
>15mm after puberty).
2. Axillary or inguinal freckling.
3. 2 or more neurofibromas or 1 plexiform neurofibroma.
4. 2 or more Lisch nodules.
5. Optic glioma.
6. A distinctive osseous lesion such as sphenoid dysplasia or
thinning of long bone cortex with or without pseudarthrosis.
7. A first degree relative with NF-1.
DIAGNOSTIC CRITERIA

12. 1. Most commonly affected bone is tibia
2. CPT can also occur in fibula, radius, ulna and clavicle
PATHOLOGY

13. • Failure of bone formation in distal tibia leading to segmental
defects, anterolateral bowing & fractures
• These sites are surrounded by thick periosteum & heavy cuff
of fibrous tissues
• Hyperplasia of fibroblast with the formation of dense fibrous
tissue
CONTD ….,

14. • In patients with NF 1
• Cells express high levels of RANK-
ligand & low osteoprotegerin
• These cells do not undergo Osteoblastic
differentiation IN RESPONSE TO BMP
• But they do have high clastic activity

15. • In untreated cases , shortening , angulation , foot deformity ,
abnormal gait in creases as the age advances
• Refractures are common & pseuarthrosis may appear untill
maturity.
• Fibromatosis blends with periosteum above and below with
bone ends & doesn’t allow healing to occur.
NATURAL HISTORY :

16. Paley et all considered the pathology is mainly due to the
periosteum rather bone itself , same theory was also considered
by cadavilla
Above theory was based on the observation of ::
• Thickening with hamartomatous transformation of
periosteum.
• Appearance of strangulation of bone with atrophic changes
followed by avascular changes.
• Failure of remodelling of pin tracts leading to stress fractures.

17. Classifiactions are based on the clinical & radiographic
observations ::
CAMURATI - 1930
ADGLEY - 1952
BOYD - 1958
APOIL - 1970
ANDERSEN - 1973
CRAWFORD - 1999
BOYD & ANDERSEN’s classification are commonly used
CLASSIFICATION SYSTEMS :

18. DYSPLATIC TYPE :
1. Tibial diameter is narrowed with sclerosis & partial or complete medullary
cavity obliterated.
2. HOUR GLASS CONSTRICTION
3. Ant/ Ant- Lat bowing
4. Fracture at birth
5. NF is always present
6. NOTORIOUSLY KNOW FOR NON UNION & RE-FRACTURES.
ANDERSON’S CLASSIFICATION

19. CYSTIC TYPE:
1. No significant narrowing of diameter
2. CYST LIKE LESION IN AFFECTED SEGMENT
3. No bowing at birth – later in life it starts bowing & gets fractured
4. NF not associated.

20. LATE TYPE :
1. Leg appears normal in early life
2. slight lower limb discripency
3. After a trivial trauma they’ll have fracture in the age group of 5yrs
4. HARDINGS AND ANDERSON type – normal at birth but bowing
starts at the age of 4yrs & 12yrs

21. CLUBFOOT TYPE :
1. Fractures are common at birth with involvement of contralateral limb
having bands & clubfoot
ANGULATED TYPE :
1. Iatrogenic pseudarthrosis
2. Occurs because of osteotomy for correction of angular deformity

22. Totally 6 types are being described :
Type 1 : Pseudarthrosis occurs with anterior
bowing with tibial defect.
BOYD’S CLASSIFICATION

23. • Type 2 : Pseudarthrosis occur with anterior bowing & a
HOURGLASS CONSTRICTION of the tibia is present at
birth.
• Spontaneous fractures
• Also known as HIGH RISK TIBIA.
• Obliteration of medullary canal.
• Most common type.
• Associated with NF-1
• Poorest prognosis.

24. Type 3 : Pseudarthrosis DEVELOPS IN A CONGENITAL
CYST usually near the junction of middle & distal third of tibia.
• Recurrance of fracture is less common after treatment.

25. Type 4 : Originates in a sclerotic segment of bone.
• Without narrowing of tibia.
• Medullary canal is partially or completely obliterated
• Stress Fractures are common

26. Type 5 : Pseudarthrosis of tibia occurs with a dysplastic fibula.
• Prognosis is good if the lesion is confined to fibula
• If the lesion progress to tibia then the natural h/o usually
resembles type 2
Type 6 : Occurs as an intraosseous neurofibroma or schwannoma
• Extremely rare

27. 1-Non-Dysplastic
Anterolateral bowing with
increased density & sclerosis
of medullary canal.
2-Dysplastic
2a Anterolateral bowing
with failure of tubularization.
2b Cystic changes.
2c Frank pseudarthrosis.
CRAWFORD’S CLASSIFICATION

28. Type 1 :
1. Atrophic bone ends
2. Mobile PA
3. No previous Sx Mx
Type 2 :
1. Atrophic bone ends
2. Mobile PA
3. With/With out previous Sx
Mx with/without retained hardware
Type 3 :
1. Broad bone ends
2. With/ without Sx Mx
3. STIFF PSEUDARTHROSIS
EL-ROSASY –PALEY
CLASSIFICATION

29. CLINICAL FEATURES :
1. CPT presents with ant / ant-lat /ant medial bowing of
dysplastic tibia or both
2. Both bone legs are affected at same level
3. Bowing increases for the first 2 yrs of life .
4. Deformity may be associated with skin dimple,
5. Limb shortening, dysplasia of fibula & ankle valgus

30. SHURRARD has described a great variety of radiological
appearances
1. Cyst formation with expansion of bone shafts with sclerotic
margin
2. Acute angulated bone
3. Lesions with NF 1 assocaition have HOUR GLASS
appearance, loss of medullary canal
4. Bone fractures

31. INVESTIGATIONS :
X RAYS
MRI
CT SCAN
MRI : Magnetic resonance imaging
• extent of the disease
• preoperative planning in that the borders for resection can be
defined precisely.
• The area of the pseudarthrosis is hyper intense on fat-suppressed
and T2-weighted images

32. MANAGEMENT PRINICIPLES
1. Achieve union
2. Prevent refracture
3. Correct limb length inequality
4. Correct associated growth abnormalities
5. Prevent ankle deformity and arthritis.
TREATMENT

33. METHODS TO ACHIEVE UNION
1. Vascularised free fibular transfer.
2. Ilizarov technique
3. Bone grafting with intramedullary nailing.
• Excision of the pseudarthrosis should be an
integral part of the procedure.

34. METHODS FOR MINIMIZING THE RISK OF REFRACTURE
• Splint the limb in an orthosis until skeletal maturity.
• Retain an intramedullary nail until skeletal maturity.

35. METHODS FOR DEALING WITH SHORTENING OF THE LIMB
1. Minimize the extent of shortening by obtaining union of the
pseudarthrosis as early as possible.
2. Established shortening can be addressed by limb equalization
procedures

36. METHODS FOR MINIMIZING VALGUS DEFORMITY OF THE
ANKLE
● Ensure union of the fibular pseudarthrosis.
● Retaining an intramedullary rod that crosses the ankle joint can
also prevent ankle deformity although the motion is lost.

37. Achieving union is difficult & many bone grafting procedures was
described and also been abandoned
Historical significance :
1. BOYD’S ONLAY GRAFT
2. SOFIELD’S (SHIK KABAB) Sx

38. 1. Leg length discripency
2. Multi level , multi directional tibial deformtiy
3. Proximal migration of fibula
4. Fibular non union
5. Ankle mortise valgus
6. Ankle joint dorsiflexion
7. Valgus contracture
8. Persistent dorsiflexion contracture.
ASSOCIATED PROBLEMS :

39. 1. Vascularized fibular graft
2. External fixation by ilizarov
3. Intramedullary rod
4. BMP
5. Electrical stimulation
SURGICAL OPTIONS

40. ILIZAROV TECHNIQUE : Incision in horizontal plane to avoid vertical
complication of diamond shaped scar in acute docking .
The bone fragments which are affected has to be resected
based on the pre op evaluation .
OPERATIVE MANAGEMENT :

41. Ilizarov ring placement :in the proximal fragment 2 rings are placed
 Just below the proximal physis (tibial tuberosity)
 Mid point of the proximal fragment
 In the distal part ring are placed 1 – 1 ½ cms above the distal physis.

42. If the distal fragment is too small, an IM nail is inserted
through the distal fragment, ankle joint, talus, calcaneum and heel
pad.

43. Lower end of the nail is bent to 900 to prevent proximal migration of nail

44. Corticotomy :
Starting 2-3 cm below the proximal
tibial physis
Anteriorly, the corticotomy
begins distal to the physis of the
tibial tuberosity proceeding
under this structure, and converging
Towards the posterior tibial growth plate,
remaining 3 to 5 cm
distal to it.

45. X rays showing after complete fixation by ilizarov’s technique

46. Contact area : Achieving union is to maximize cross-sectional
area of contact between the two fragments.
1. If the CPT ends are broad, transverse cut and end-to end
compression is performed.
2. If the bony ends are thin and atrophic, they are gradually
overlapped and side-to-side compression is given. This doubles
the overall diameter of union.

47. 3. One or both ends may be split, with insertion of one end into
the other closed end.
4. One end is inserted into the other by open or closed reduction.

48. Problems of Acute Docking
The most important problem is the possibility of the
neurovascular compromise due to fibrosis around the fracture
site.

49. The Williams Rod is passed through the nonunion site, antigrade
through the calcaneum and then retrograde into the proximal
fragment.
The foot is incorporated and the ankle is transfixed in neutral
position.
WILLIAM’S NAIL FOR
INTRAMEDULLARY FIXATION

50. Steps of william rod insertion :
Initially bone graft harvested from iliac crest
Direct anterior approach done at the PA site, fibrous tissue debrided until
normal medullary canal identified. Canal reamed and made patent for nail
insertion.

51. The Williams device consists of an indwelling rod and an insertion rod.
The indwelling rod is smooth and cylindrical and varies in diameter.
The proximal end is machined to a diamond tip, and the distal blunt end is
threaded internally for approximately 15 mm so that a second (insertion) rod
of equal outside diameter can be attached to it temporarily.
The insertion rod is machined proximally so that its external threads screw
into the distal end of the indwelling rod, and it is machined distally to a
diamond tip.

52. Drive the coupled rods into the distal part of the tibia at the site
of the osteotomy, across the ankle and subtalar joints, and out the
sole through the heel pad.
When the rod is placed across the ankle joint, it is important to
correct valgus deformity of the ankle and dorsiflexion deformity
of the foot,
Approximate the tibial fragments, and drive the rod retrograde
into the region of the proximal tibial metaphysis, nearly to the
tibial physis, but not encroaching on it. Unscrew the insertion rod
a single full turn, and verify the junction of the rod on a lateral
radiograph

53. Strategy of where the distal end of rod should be as suggested by
Schoenecker
1. <5 yrs of age distal end of rod into body of calcaneum
2. 5-8yrs transfixation of ankle but not the subtalar joint.
3. >8 yrs no ankle inclusion just stabilize the pseudarthrosis part of
the bone.

54. Charnleys intramedullary device :

55. PERIOSTEAL GRAFTING :
Rationality of periosteal grafting is that periosteum is a
powerful bone forming structure
Periosteum is taken from the iliac crest, soft tissue is denuded from the
periosteum and is wrapped around the pseudarthrosis site
Bone grafting from the cancellous bone is first inserted around the
nonunion area and then the periostal graft is wrapped over the graft.

56. Vascularized fibular graft (VFG)
Weiland et al advocate vascular fibular graft operation in the
management of congenital pseudarthrosis
The operative procedure consists of: harvesting of the
vascularized fibula with the peroneal vascular pedicle.

58. ELECTRO MAGNETIC STIMULATION
Electrical stimulation doesnot correct existing deformities and
thus its appplication is probably limited to the earlier phases of
pseudoarthrosis treatment when union is the primary goal.

59. BONE MORPHOGENETIC PROTEIN
currently available forms (rhBMP-2 and rhBMP-7) of this protein
have been used.
BMP was used in conjunction with other accepted forms of bony
stabilization such as intramedullary fixation

60. 1. Refractures after union
2. Shortening of limb =
a. Due to retarded distal tibial physis with distal migration of pseudarthrosis
b. Lack of stimulus of wt bearing
c. Resection bone loss
d. Shortening treated by ILIZAROV
COMPLICATIONS :

61. 3. Valgus ankle
a. Medial malleoli normal growth than lateral
b. High riding of fibula with no lateral support to ankle
treated with tibiofibular synostosis

62. 1. Poor if both bones are involved
2. Proximal lesions are better than distal ones
3. Worse if associated with NF
4. In cystic type bone are thick - less fractures
5. If sclerotic & tapering ends - poor outcomes
6. Prog Is better in older age group
PROGNOSIS

63. 1.Fibrous dysplasia
2.Rickets
3.osseous syphilis
Early congenital syphilis
Late congenital syphilis
4.infantile scurvy
5.osteogenesis Imperfecta
6.Nonunion of fracture
7.blounts disease(infantile tibia vara)
DIFFERENTIAL DIAGNOSIS :

64. Sharrard has described two types
of anterior bowing.
a. Benign type: no stigmata of
neurofibromatosis, bone is
thick and the trabeculae are
almost normal, Spontaneous
correction Occurs, no
pathological fracture occurs
b. Progressive type : narrow
medullary cavity ,NF
features +,deformity
increases , fractures are
common.
ANTERO LATERAL
BOWING

65. Treatment : Mc farlands posterior bypass grafting for bowing
deformity

66. Grafting is done for the children's who have not yet started
walking B/W 6m-9months
In cystic – curettage is all needed
Try to avoid osteotomy at the apex.

67. Usually accompanies the fellow bone tibia
But several grades of fibular bowing are described :
A. bowing of the fibula without pseudarthrosis,
B. fibular pseudarthrosis without ankle deformity,
C. fibular pseudarthrosis with ankle deformity,
D. fibular pseudarthrosis with latent pseudarthrosis of the tibia
PSEUDARTHROSIS OF
FIBULA

68. In adults the deformity can be corrected by supramalleolar
osteotomies
Where as in childrens Langenskiold devised a procedure to
prevent valgus deformity or halt its progression.

69. Through direct anterior approach to
Fibula , resection of affected fibula
1-2cm prox to tibial physis holes are
Drilled as wide as fibula
Take iliac crest graft long enough for
Tibial width, insert from above the cut
Surface of fibula to tibia hole.. Fill the gap
With cancellous bone graft.

70. Extremely rare case scenario of clavicle pseudarthrosis
This condition has to be distinguished from CLEIDOCRANIAL
DYSOSTOSIS
Most of the cases were associated with CLEIDOCRANIAL
DYSOSTOSIS
CONGENITAL PSEUDARTHROSIS
OF THE CLAVICLE

71. Cleido cranial dysostosis
Features :
Delayed eruption of permanent teeth
Hypertelorism
Frontal bossing
Micrognathia
Large fontanelle
Clavicle pseudarthrosis
No features of dysostosis
Abnormal swelling the clavicle region

72. First case was report by Fitzwilliams, in 1910 and described the
clinical features :

73. The right clavicle was in two portions at the junction of the
middle and outer third
The sternal end was tilted upwards at its outer extremity so as to
override the inner end of the acromial portion and formed such a
prominence in the neck.
The two portions were united by a ligament which became more
evident on attempting to separate them
Their adjacent ends were thickened in a very characteristic
manner contrasting with the thin peg-shaped extremities seen in
ununited fractures.

74. ETIOLOGY : The histories suggested that the lesion was well
established at birth and that it resulted from a Failure of
normal ossification.
Normally 2 ossification centers are being formed at 5th & 6th
week of gestation , fuses by 7th week
In CPC this fusion is affected during 7th month of gestation
May be related to pulsations of the underlying subclavian
artery

75. States that at this stage each segment in cross section shows the
following parts :
1) Externally a connective tissue jacket of periosteum or
perichondrium.
2) A cylinder of precartilage.
3) A central mass of bone.
FAWCETT’S DESCRIPTION

76. Cases of existence of the clavicle in two apparently separate
masses may, be explained on the ground of non-ossification of
the precartilaginous bridge connecting the sternal and acromial
segments with one another
Treatment : The choice of treatment lies between acceptance of
the deformity, bone grafting, or
reducing the swelling.
FAWCETT CONCLUDES

77. Bone grafting should be done in all children up to the age of
eight. The operation is best done between the ages of two and
four when the child is big enough and yet has the best chance of
union before much deformity develops.
Less than 8 yrs better to accept the deformity than correction

78. This condition is also a rare presentation usually associated with
NF
C/F : stigmata of NF with
varus of elbow ,
pronation restricted ,
flexion & extension restricted
CONGENITAL PSEUDARTHROSIS
OF ULNA

79. Radiological features : dysplastic ulna with radial
bowing
Impaired development of capitulum , trochlea
due to undue pressure on the distal humeral
articulating surfaces.

80. Treatment :

81. Treatment : the main aim of treatment should be maintenance of
the normal relative lengths of the radius and ulna by early
excision of the pseudarthrosis to remove the restraining effect of
the abnormal ulna.
This will allow normal development of the lower end of the
humerus and radius and prevent dislocation of the radial head.

82. Relative lengths can be maintained by : Defect was replaced by a
segment of the patient’s fibula and secured by a Kirschner wire.
In case of radial fracture plating has to be done

83. Thank you !!!