Congenital Bone Disease

BONE AND BONE HEALING

CONGENITAL BONE DISEASE

Plenary:
FRACTURE
Friday 10/8
13.40-15.25

Congenital Bone Disease

1. COMMON NORMAL VARIATIONS IN CHILDREN
Caused by Hypermobility of Joints (Joint Laxity)
Flat feet
Knock knees
Caused by Torsional Deformities of Bones
Toeing out
Toeing in
Bow leg
2. CONGENITAL ABNORMALITIES
CTEV (congenital talipes equino varus)
DDH (developmental displacement of the hip)
ACHONDROPLASIA
MARFANS DISEASE
3. DISORDERS OF EPIPHYSIS AND EPIPHYSEAL GROWTH PLATE
LEGG-CALVE-PERTHES DISEASE
SLIPPED UPPER FEMORAL EPIPHYSIS

Congenital Bone Disease :

1. COMMON NORMAL VARIATIONS IN CHILDREN

Tend to improve spontanously

The borderline between the extremes of
normal variation and the beginning of
abnormal is not always clear
Only extremes needs specific treatment such
as corrective shoes, braces

Congenital Bone Disease :Common Normal Variations In Children

JOINT LAXITY
Flat feet
look flat only on weight bearing
Arch support for extreme
Knock knees
W or television position

Congenital Bone Disease :Common Normal Variations In Children

TORSIONAL DEFORMITIES

Alteration of epiphyseal plates

Toeing out (external femoral torsion)
Sleep face down

Toeing in (internal femoral torsion)

Television position

External tibial torsion

Television position

Internal tibial torsion

Sleeping on the knees with feet turned in

Bow legs

Internal torsion of tibia and external torsion of femur

Congenital Bone Disease :

2.

CONGENITAL ABNORMALITIES

May be defined as defects in the development

of body form or function that are present at the
time of birth
May be localized or generalized
Incidence: 3% at birth to 6 % at 1st year (not
detectable or not defineable at birth, as
variations)
Caused by genetics defects and/or
environmental influences

Congenital Bone Disease :Congenital abnormalities

Localized Abnormalities
Aplasia
Hypoplasia
Dysplasia
Hypertrophy
Duplication as Polydactyly
Arrested as Spina bifida
Dislocated as dysplasia of the hip (DDH)
Contracture as congenital clubfoot (CTEV)

Congenital Bone Disease :Congenital abnormalities

Generalized Abnormalities
Developmental defects of epiphyseal growth plate
as in Achondroplasty
Imbalance between bone deposition and resorption
as in Osteogenesis Imperfecta
Errors of metabolism as in Refractory Rickets
Hypermobile joint as in congenital generalized
joint laxity (Marfans syndrome)
Rigid joint as in Amyoplasia congenita
(Arthrogryposis)

Diagnosis Congenital Bone Disease

Antenatal
by Tissue sampling of amnion, guided by Ultrasound
as in open Neural Tube Defect
Postnatal
Easy as in Clubfeet
Specific clinical examination as in DDH

Failure to recognize a congenital abnormality at the

earliest possible time is an injustice

Treatment Congenital Bone Disease

EARLY RECOGNITION, EARLY TREATMENT, COUNSELING

TOTAL CARE: planning, skillful and prolonged

1.
2.
3.
4.
5.
6.

supervision
TO CURE SOMETIMES, TO RELIEVE OFTEN AND
TO COMFORT ALWAYS
First do no harm
Base treatment on an accurate diagnosis and prognosis
Select treatment with specific aims
Cooperate with the laws of nature
Be realistic and practical in your treatment
Select treatment for your patient as an individual

Congenital Bone Disease :Congenital abnormalities

CONGENITAL TALIPES EQUINO-VARUS

CTEV (CLUBFOOT)
Talipes: Talus = ankle; Pes = foot.
Equinus: = horse
Foot that is in a position of plantar flexion at the ankle, looks
like that of the horse.

Congenital Bone Disease :Congenital abnormalities

Clubfoot (CTEV)

TYPES:
Postural: minor and corectable
Idiopathic
Acquired (Central Nerve Systeme disease, Arthrogryposis)
INCIDENCE:
Occurs approximately in 2 of every 1000 live birth
Male are affected in about 2X girls
Bilateral cases are as high as 50 %
Genetic factor in 10%
BASIC PATHOLOGY:
neuro-muscular cause starting from the early stage of
embryonic development

Congenital Bone Disease :Congenital abnormalities

Clubfoot (CTEV)

Normal foot
CHARACTERISTIC DEFORMITY :
Hind foot:
Equinus
(Ankle joint)
Varus
(Subtalar joint)
Fore foot:
Forefoot
Hind foot
Adduction (Mid tarsal joint)
Supination
Cavus
Abnormal Tarsal Relation
and Soft Tissue Contracture
Short Achilles tendon
High and small heel
No creases behind Heel
Abnormal crease in
middle of the foot
Foot is smaller
Callosities
Internal torsion of leg
Calf muscles wasting
Dont prevent walking

Normal foot

Clubfoot

Congenital Bone Disease :Congenital abnormalities

Clubfoot (CTEV)

TREATMENT :
GOAL IS TO OBTAIN A FUNCTIONAL, PAINLESS AND NORMAL
APPEARANCE PLANTIGRADE FOOT THAT STABLE OVER TIME.

A.Non surgical treatment should begin shortly after birth:

Gentle passive correction
Immobilization:
1. POP weekly for 6 weeks
2. Tape strapping weekly for 8 weeks
Splints to maintain correction for 3-6 months
Dennis Brown splint
Orthopaedic shoes
Supervision until end of growth
PONSETI
manipulation
and serial casts

Congenital Bone Disease :Congenital abnormalities

Clubfoot (CTEV)

TREATMENT :
B. Surgical treatment if failure/ recurrence of conservative treatmt
Soft tissue operations are best performed at 3 to 6 months, but still
effective until the first 5 years:
release of contractures,
tenotomy,
tendon elongation/transfer,
restoration of bony relationship
Bony operations at 5 to 10 years : (Usually accompanied with soft
tissue operation):
osteotomy,
wedge excision arthrodesis,
salvage operation to restore shape

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

DEVELOPMENTAL DISPLACEMENT OF THE HIP

(DDH/CDH)

A PROGRESSIVE DEFORMATION
OF PREVIOUSLY NORMALLY
FORMED STRUCTURES DURING
THE EMBRYONIC PERIOD

NOT a malformation of organogenesis

Congenital Bone Disease :Congenital abnormalities

The most common disorder affecting the hip in

children

Hip Instability at Birth : 0.5 1 % of infants

Classic DDH : 1.5 in 1000 infants, bilateral in

more than half and girls 8 x more frequent

Up to 50 % of hip arthritis in ladies, have

underlying hip dysplasia

Most frequent among the Canadian Indian (due to

tightly wrapped blanket ??? ), followed by the
Caucassian, and less among the Chinese

DDH/CDH

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

ETIOLOGY : DDH/CDH
1.
2.
3.
4.

Physiologic factors: ligament laxity (hormonal, familial)

Genetic factors: female, monozygote
Mechanical factors: breech position, swaddling
Enviromental factors : strapping

DDH PATIENTS AT RISK:

Positive Family History
A baby girl
Breech Presentation
Torticollis
Calcaneovalgus & metatarsus adductus of the foot
Hyperextension & dislocation of the knee
WHEN RISK FACTORS ARE PRESENT:
The infant should be examined repeatedly
The hip should be imaged ( by U/S or X-ray )

Congenital Bone Disease :Congenital abnormalities

NEONATAL CLINICAL EXAMINATION :

LOOK :

External rotation attitude

Lateralized contour
Wide perineum in bilateral DDH
Asymmetric thigh folds
Shortening ( not in neonates):
Galeazzy sign

DDH/CDH

Congenital Bone Disease :Congenital abnormalities

NEONATAL CLINICAL EXAMINATION :

FEEL :
Empty groin
Weak Femoral pulse

MOVE :
Hip instability in early infancy
Limited hip abduction in flexion later
if <600 on both sides: request imaging

DDH/CDH

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

NEONATAL CLINICAL EXAMINATION :

ORTOLANI by already dislocated hip

Feel a Clunk
Not hear a click !

BARLOW (provocation test) by every infant to seek out the instability

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

NEONATAL CLINICAL EXAMINATION :

THOMAS TEST (Hip Flexion Deformity) :

Loss of fixed flexion deformity (FFD) of hips (in early
infancy)

FFD
Normal

No FFD
?DDH

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

NEONATAL CLINICAL EXAMINATION :

HAMSTRING STRETCH SIGN:

Flex hip and knee 900 each.

Keep hip flexed and gradually extend the knee
Normally a resistance is felt towards the end of knee extension
(caused by the hamstrings which are pulled from both ends)
In cases of DDH, no resistance is felt
(when the hip is dislocated, the origin of the hamstrings are
not pulled by hip flexion)

Congenital Bone Disease :Congenital abnormalities

NEONATAL CLINICAL EXAMINATION :

TRENDELENBURG: unilateral / bilateral (waddling)

DDH/CDH

Congenital Bone Disease :Congenital abnormalities

RADIOGRAPHY :

Early infancy: not reliable

By 2-3 months of age: reliable
AP view - neutral position
- draw reference lines
- acetabular index - in early infancy
< 30o
: normal
30o 40o : questionable
> 40o
: abnormal
Von Rosen view : 45o abduction

DDH/CDH

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

TREATMENT :

AIMS:

Obtain and Maintain concentric reduction

In an atraumatic fashion
Without disrupting of the blood supply

HOW?:
Method depends on age: the earlier started, the easier
the treatment and the better the results
Should be detected EARLY
Most resolve spontaneously in neonatal period

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

DIAGNOSIS AND TREATMENT :

CLINICAL DIAGNOSIS

TREATMENT

NEONATE (UP TO 3 MONTHS) :

Instability/ Ortolani-Barlow
Thomas test
3-18 MONTHS :
Limited abduction
Shortening ( Galeazzi )
Hamstring stretch sign

NEONATE (UP TO 3 MONTHS) :

Gentle reduction & Pavlik or
plaster hip spica
3-18 MONTHS :
-Continous traction,
-Adductor tenotomy, gentle reduction
and human hip spica for 6 months
-Open reduction
18 MO-5 YEARS:
-Continous traction,
-Adductor tenotomy &open reduction
-Innominate osteotomy

18MO-5 YEARS :
Limited abduction
Shortening ( Galeazzi )
Hamstring stretch sign
Trendelenburg
> 5 YEARS :
Trendelenburg
Hamstring stretch sign

>5 YEARS:
-Open reduction,
-Innominate osteotomy and / or femoral
shortening

Congenital Bone Disease :Congenital abnormalities

DDH/CDH

TREATMENT :

Birth 3 months: Pavlik harness

3- 18 months: Human hip spica

18 months >5 years:

Congenital Bone Disease :Congenital abnormalities

ACHONDROPLASIA
DWARFISM: A failure of longitudinal
growth in the cartilage of the epiphyseal
plate of all bones that form by
endochondral ossification
Occurs in about one in every 25,000 births
Have a normal mentality and life
expectancy
Achondroplasia is hard to live with because
of lung infections and walking difficulties.
Currently is no way to normalize skeletal
development (even with hormonal or
Illizarof surgery)

Congenital Bone Disease :Congenital abnormalities

CLINICAL FEATURES : Achondroplasia

Without cartilage formation, the limbs are

disproportionately shorter than the trunk, with the total
height 4 feet

A short stature in a long narrow trunk with short

bowed extremities and curved spine, large head with
frontal bossing, hypoplasia of the midface, trident fingers
and decreased muscle tone

An autosomal dominant disorder, sporadic as the result of

a new mutation in a germ cell.

Congenital Bone Disease :Congenital abnormalities

MARFANS SYNDROME
A heritable condition that affects the connective tissue
with an excessive longitudinal growth in the cartilage of
the epiphyseal plate of all bones (hyperchondroplasia)
that form by endochondral ossification
Arachnodactily: Spider fingers, excessive length
of the limbs and lesser extent of the trunk
Occurs rarely, male = female,
Life threatening by generally weak condition, with joint
laxity, scoliosis, pectus excavatum, extremely flexible
flat feet, and congenital heart disease and congenital
dislocation of the lens

Congenital Bone Disease :

3. DISORDERS OF EPIPHYSIS AND

EPIPHYSEAL GROWTH PLATE
THE OSTEOCHONDROSES (disorders of epiphysis)

Epiphysis appear to be more resistant to infection and

neoplasm, but more vulnerable to avascular necrosis
A vascular necrosis of the epiphyseal center represents:
the initial loss of blood supply, the dead of bone, and the
gradual replacement by living bone.
Most common from the ages of 3 to 10.
Boys more than girls
Lower limb more than upper limb
Bilateral in 15% of involved children
Predisposing factors: genetic, trauma and idiophatic

Congenital Bone Disease : Disorders of epiphysis and epiphyseal growth plate

THE OSTEOCHONDROSES (disorders of epiphysis)

Are self-limiting disorders that eventually heal spontaneusly

The pathological process run in 4 phases for 2 to 8 years
depending on the age of onset and the extent of involvement
1.
2.

3.
4.

Early phase of Avascularity: disruption of blood supply,

symptomless and no deformity
Phase of Revascularization with bone deposition and resorption:
occuring a pathological fracture in the subcondral bone with pain
and synovial effusion and appearance of fragmentation with
weakening of epiphysis causing a progressive deformity
Phase of Bone Healing: Bone resorption ceases and bone
deposition continues with biological plasticity
Phase of Residual Deformity: lead to the gradual development of
the degenerative joint disease

Congenital Bone Disease : Disorders of epiphysis and epiphyseal growth plate

THE OSTEOCHONDROSES (disorders of epiphysis)

THE SEQUELAE:
Subchondral fracture in the epiphysis, Subluxation of the joint,
Deformity of the epiphysis and Secondary degenerative joint disease

THE AIMS OF TREATMENT:

To prevent deformity of the ephiphysis and to prevent secondary OA
by preserving congruity of the joint

Congenital Bone Disease : Disorders of epiphysis (the osteocondroses)

LEGG-CALV-PERTHES DISEASE
OSTEOCHONDROSIS OF FEMORAL HEAD
Usually ages 3-11years (mostly 6-8)
(AVASCULAR NECROSIS OF EPIPHYSES)
As early as 2 years, as late as teens
Boys:Girls = 5 : 1
Bilateral 15% of the affected children
Caused by poorly understood non
genetic factors
No evidence of inheritance ?? 10%

Congenital Bone Disease : Disorders of epiphysis (the osteocondroses)

Avascular necrosis of epiphyses

Congenital Bone Disease : Disorders of epiphysis (the osteocondroses)

Avascular necrosis of epiphyses

Catteralls head at risk signs

Lateral subluxation of the head

Whole of the head involved
Calcification lateral to epiphysis
Metaphyseal cysts
Gages sign
Horizontal physis

Congenital Bone Disease : Disorders of epiphysis (the osteocondroses)

Avascular necrosis of epiphyses

Salter-Thompson Classification
Simplification of Catterall
Based on status of lateral
margin of capital femoral
epiphysis
Group A (Catterall I & II
equivalent): less than 50%
Group B (Catterall III & IV
equivalent): more than 50%

Congenital Bone Disease : Disorders of epiphysis (the osteocondroses)

Avascular necrosis of epiphyses

Congenital Bone Disease : Disorders of epiphysis (the osteocondroses)

Avascular necrosis of epiphyses

The treatments principle is containment of the
femoral head, plus a full range of hip joint motion and
full weightbearing so that the involved femoral head
may be protected from becoming flattened. (Abduction
plaster cast / brace for LCP)
The surgical procedures are designed to prevent
subluxation of the involved hip, used in children older
than 5 years with > 50% head involvement (varus
femoral osteotomy and innominate osteotomy)
The prognosis is good in children whose onset
occurs before the age of 5 years: seldom require any

Congenital Bone Disease : Disorders of epiphyseal growth plate

(disorders
of epiphyseal
growth plate)
SLIPPED
UPPER
FEMORAL
EPIPHYSIS
ADOLESCENT COXA VARA: the epiphysis
slips downward and backward in relation to the neck
of femur. Second hip attack in 30% subsequently
Older child from 9 years old to the end of growth.
Tall thin or obese Frohlich type.
Boys>girls
Imbalance between growth hormone and sex
hormones weakens the epiphyseal plate, vulnerable
to the shearing forces of weight bearing and injury.

Congenital Bone Disease : Disorders of epiphyseal growth plate

Slipped femoral epiphysis

Most common in obese boys in adolescence

Classified as acute, chronic, and acute-on-chronic
Slight limp, trendelenburg type gait, externally
rotated lower limb.
gradual or sudden causes pain
abduction & internal rotation are limited
Kleins line on xray
Treatment: Pinning in situ to prevent further
slipping (forcefull manipulation must be avoided)

Fracture Healing

Fracture Healing

Fracture Healing: THE REACTIVE PHASE

Hematoma Formation (1st)

Dead bone and tissue =

inflammatory reaction including
vasodilation, plasma exudate, and
inflammatory cells

Cellular Formation (2nd)

Acidic environment but turning neutral

Influx of endosteal cells from cambium
layer to produce a fibrous callus
(environment has high oxygen tension)
then cartilage (has a low oxygen tension
environment)

Fracture Healing: THE REPARATIVE PHASE

Callus Formation (3rd)

Internal callus (grows quickly to create

rigid immobilization)
Fibroblast deposit collagen in the
granulation tissue
Soft Callus is formed (Unorganized
network of woven bone)
Hard callus a gradual connection of
bone filament to the woven bone (Acts
like a temporary splint): 3-4 months.
Bone is beginning to strengthen and
immobilize
If proper immobilization does not occur;
cartilage will form instead of bone

Ossification (4th)

Fracture is bridged and united

Will occur with adequate
immobilization
Bone ends become crossed with a
new Haversian system that will
eventually lead to the laying down
of primary bone

Fracture Healing: THE REMODELING PHASE

Remodeling Phase (5th)

Remodeling hard callus to compact bone

May take a few years
Completed when the fractured bone has been
restored to its original form or shape or when it
can withstand the imposed stresses placed on it

Fracture Healing

Conditions that interfere with fracture

healing
Poor blood supply to the fractured area;
could lead to avascular or aseptic necrosis
Poor immobilization of fracture site may
cause misalignment or deformity
Infection more common with open
fractures

Fracture Healing

REDUCTION
Direct & Indirect
Anatomical & Functional

STABILIZATION
Absolute vs Relative