self made

1. Dr (Major) Parthasarathy S
Pg Resident,MS Orthopaedics
Stanley Medical College,Chennai
Ref :Apley’s system of orthopaedics & fractures 9th
edn
Campbell’s operative orthopaedics 13th
edn
Chapman’s orthopaedic surgery 3rd
edition
Radiographs-Websites

2.  Brittle bone disease
 Genetic disorder of bone
 1:20000 incidence
 Abnormal synthesis & structural defect of
type I collagen
 Affected
 Bones
 Teeth
 Ligaments
 Sclera
 skin

3.  Considerable variations in
 severity of expression
 Pattern of inheritance

4.  Abnormality in gene that codes for alpha
chain type I collagen
 17q Chromosome
 COL1A1/COL1A2 gene-encodes procollagen
 Type I –quantity
 Other types both quantity & quality

5.  Alteration in structural integrity
 Reduction in total amount of type I collagen
 Weakening of tissue
 Imperfect ossification of bone
 Initiated normally
 Progress abnormally
 Mixture of lamellar & woven bone
 Immature woven bone

9.  Thinning of dermis
 Laxity of ligaments
 Corneal translucency increased
 Loss of dentin – tooth decay

10.  Based on
 Pattern of inheritance
 Age of presentation
 Severity of changes in bone & extra-skeletal
tissue
 SILLENCE classification -1981
 Four clinical types-original
 Additional types added later

12.  Commonest variety
 AD inheritance
 >50%
 # 1-2 yrs of age
 Healing reasonably good
 Deformity not marked
 Deep blue sclera
 Teeth usually normal
 Impaired hearing in adults
 Normal life ecpectancy

13.  5-10%
 New dominant mutation/AR
 Intrauterine/neonatal #
 Large skull & wormian bone
 Grey sclera
 Rib # and respiratory difficulty
 Still born/neonatal death

15.  Sporadic/AR
 Classic but not commonest
 # pesent at birth
 Large skull/wormian bone/pinched looking
face
 Marked deformities/kyphoscoliosis by 6 yrs
 Grey sclera becoming white
 Dentinogenesis imperfect
 Joint laxity marked
 Few survive to adulthood

16.  Uncommon
 AD
 <5%
 Frequent # during early childhood
 Deformities common
 Pale blue sclera or normal
 Dentinogenesis imperfect
 Survive to adulthood with fairly good
function

18.  Looser classification
 Congenita(Vrolik disease)
 Tarda(Ekman-Lobstein disease)

19.  Vary considerably
 Defining clinincal features
 Osteopenia
 Liability to #
 Minor trauma
 Without much pain & swelling
 Discovered during infancy
 Recur frequently throughout childhood
 Florid callus

20.  Lump mistaken for osteosarcoma
 Abnormal pliable new bone
 Heal within a normal time interval
 Minimum time immobilisation
 Malunion & refracture
 By 6 yrs severe deformity of long bones & spine
 After puberty # is infrequent
 Subclinial forms-recurrent # in adults

21.  Anterolateral bow or proximal varus
deformity of the femur
 Anterior or anteromedial bow of the tibia
 Spinal deformity---Scoliosis/kyphosis
 Most common type of curve is thoracic
scoliosis.
 Spondylolisthesis, Cervical spinal #
 Adults may be predisposed to rupture of the
patellar ligament or Achilles tendon.

24.  Acetabular protrusion
 The humerus-- angled laterally or
anterolaterally
 The forearm rotation is often severely
limited
 The elbow joint has cubitus varus with
flexion contracture.
 The faciocranial disproportion--- gives the
face a triangular, elfin shape.
 The ears are displaced downward and
outward. The configuration of the skull ---
soldier's helmet and is called “helmet head.”

29.  Laxity of ligaments & hypermobile joints
 Blue/grey sclera
 Due to uveal pigment showing through
hypertranslucent cornea
 Dentinogenesis imperfecta(crumbling teeth)
 Thin & loose skin
 In severe cases
 # present before birth
 Stillborn or neonatal death
 Look for evidence of battered baby syndrome
 Motor development delayed in severe form

33.  Basilar invagination
 Basilar stem compression
 Macrocephaly
 Hydrocephalus
 Early death due to respiratory arrest

34.  OI +AMC
 Alfred Bruck -1897
 Very rare
 Joint contractures + OI features
 Normal sclera/hearing

35.  Radiograph
 Generalised osteopenia
 Thinning of long bone
 # in various stages of healing
 Vertebral compression
 Spinal deformity
 Skull enlarged
 Wormian bones in skull-areas of vicarious
ossification n the calvarium
 Widening of metaphysis
 Popcorn epiphysis

36.  Prenatal diagnosis
 USG
 Chorionic villous sampling

37.  Preventing #
 Light weight orthoses
 Splinting
 Regular followup
 Plating not recommended
 Skeletal traction not recommended

38.  Cyclical bisphosphonates
 No optimal dose regimens
zebra stripe sign-- cyclic bisphosphonate
treatment produces sclerotic growth recovery
lines in the long bones

39.  Sofield & Millar
 Multiple osteotomies
 Realignment
 Medullary nail-solid
 Indication
 Deformity correction
 Prophylaxis

43.  4 main types are developed
Bailey-Dubow
Sheffield
Fassier-Duval
Interlocking telescoping rods
 These rods have a female hollow nail anchored
in the proximal epiphysis of the long bone and a
male solid nail anchored to the distal epiphysis.
They are elongated as the child grow. So, less
revision rates compared to solid

44.  Rod diameter
 Larger diameter gives more stability but causes bone loss
around the rod
Therefore, thinner rods are recommended acting as
internal tutor and not replacing the bone
Leaving 2 mm around the rod in any plan is a safe
method
 Rod length
 Pre-operative templates are essential taking into account the
osteotomies needed to straighten the bone
Measure the length (L) between greater trochanter
and distal growth plate
Female rod length is (L) - 7 mm
Male rod length is (L) + (10-15) mm

45.  T piece is not a component of the rod and has to
be attached to it
 No locking mechanism ensures the fixation to
epiphysis
 Need arthrotomy for insertion
 The reoperations rates are 21% - 32%

47. Complications of Bailey and Dubow:
 Proximal rod migration
 Disengagement of the
epiphyseal T-piece
 Bending
 Infection

49.  Design with a fixed T-piece on either end
 It is rotated intraoperatively for better fixation
within the epiphysis
 The reoperation rate is 20%
 Need arthrotomy for insertion

51.  The anchorage is achieved through
screw type fixation by threaded
portions at the proximal and distal ends
with improved “screw-in” fixation
 The advantage of this rod over the
traditional Bailey-Dubow and Sheffield
rods is the single proximal entry point
 Reoperation rate is 13% in a study on 15
patients
 FD rods are safe and pose no risk of
migration, heating effects, or artifact
when undergoing an MRI of the spine
using a 1.5 T magnet

54.  The female rod is the same as Sheffield telescopic
rod system while The male rod has a hole at its
distal tip to receive the interlocking pin
 A revision rate of 9% at 2 years and 28% at 3
years.
 No need for
arthrotomy
 proximal migrat-
-ion is 12.5 %

56.  Regular nail
 In older patient