DR ANIPOLE O.A

LECTURE 1/CONSULTANT ORTHOPAEDIC SURGEON

OUTLINE

• INTRODUCTION

• EMBRYOLOGY

• CAUSES OF CONGENITAL

ORTHOPAEDIC ABNORMALITIES

• CONGENITAL LIMB ABNORMALITES

• CONGENITAL VERTEBRAL

ABNORMALITIES

• CONCLUSION

INTRODUCTION

• Phenotypic variations characterised by disorganized physical appearance and function

• It can affect

– a part of a single extremity

– a whole limb

–Multiple sites

– combined with severeal

anomalies

EMBRYOLOGY

• The embryonic arm buds appear about 4

weeks after fertilization and from then on the

limbs develop progressively from proximal to

distal.

• By 6 weeks the digital rays begin to appear

• Growth goes hand in hand with genetically

programmed cell death that results in

modelling of the limbs and the formation of

joints and separate digits.

EMBRYOLOGY

• The process is more or less complete

by the end of the eighth week after

fertilization, at which time primary

ossification centres begin to appear in

the long bones

AETIOLOGY

–Genetic

•Single gene pathology

•Multiple genes pathologies

•Chromosomal anomalies

–Non-genetic

•Teratogenic

• İdiopathic – in majority of cases

• CONGENITAL UPPER LIMB

ANOMALIES

CLASSIFICATION

• As adopted by International Federation of Societies for

Surgery of the Hand (IFSSH) lists seven major

categories:

(1) Failure of formation of parts

(2) Failure of differentiation of parts

(3) Duplication

(4) Overgrowth

(5) Undergrowth

(6) Constriction bands

(7) Generalized skeletal abnormalities.

Failure of formation of parts

1. Transverse arrest e.g Symbrachydactyly

2. Longitudinal arrest

Radial club hand

Ulnar club hand

Cleft hand

Intercalary segmental dysplasia- Phocomelia

Transverse arrest

Radial club hand

Radial club hand

• Partial or total absence of radius

• Associated congenital cardiac pathologies, abdominal pathologies and haematologic diseases

• RX:

• Soft tissue stretching

• Soft tissue release

• Centralisation of carpus

Ulnar club hand

Cleft hand

• Absence of central ray of hand or foot

RX: Reconstructive surgeries

• Intercalary segmental

dysplasia- Phocomelia

Failure of differentiation of parts -

SYNDACTYLY

IT CAN BE SIMPLE

OR COMPLEX

IT CAN ALSO BE

INCOMPLETE OR

COMPLETE

RX: Z-PLASTY

Duplication- POLYDACTYLY

• It can be pre

axial or post

axial

• RX:RX:

EXCISION OF

EXTRA DIGIT

Overgrowth -MACRODACTYLY

• Also think of

Neurofibromatosis

Multiple

enchondromatosis,

Vascular

malformations

RX: DEBULKING&

EPIPHYSIODESIS, OR

AMPUTATION

Undergrowth

Constriction bands

Generalized skeletal abnormalities

Treatment

–Controversies about timing of treatment

• Before the recognition of upper extremity

• Before walking for the lower extremity

–Treatment modalities

• Manipulative stretching

• Reconstructions (esp. in upper extr.)

• Deformity correction and extremity lengthening

• Amputations

Others – Madelung deformity

Arthrogryposis multiplex congenita

(AMC)

• Congenital lower limb abnormalies

• ???? Congenital hip dislocation (DDH)

• Proximal focal femoral deficiency

• Congenital knee dislocation

• Tibial hemimelia

• Fibular hemimelia

• Congenital tibial pseudoarthrosis

• Congenital talipes equinovarus(CTEV)

• Calcaneovalgus

• Vertical talus

• Tarsal coalition

Proximal focal femoral deficiency

PFFD

Tibial hemimelia

Congenital tibial pseudoarthrosis

THE CONGENITAL CLUBFOOT

[SYNONYM: CONGENITAL TALIPES

EQUINOVARUS (CTEV)]

• The term talipes equinovarus is derived from

Latin which is broken down as:

• talus which means the ankle;

• pes meaning foot;

• equines, meaning ‘horse like’

THE CONGENITAL CLUBFOOT

[SYNONYM: CONGENITAL TALIPES

EQUINOVARUS (CTEV)]

• This is a complex three-dimensional deformity having four components:

• Forefoot adduction

• Midfoot cavus

• Hindfoot varus

• Ankle equinus

(CAVE)

EPIDEMIOLOGY

• Clubfoot represents about 80% of the

congenital musculoskeletal deformities

• 1/1000 live births. Differs among ethnicities.

Close to 75/1000 live births among

Polynesians.

• Increased incidence in deformities in

monozygotic twins

• M:F= 2:1

• Bilateral involvement in about 50%

• In unilateral cases Rt > Lt

ETIOLOGY- Idiopathic clubfoot

Many theories have postulated but no consensus.

1. Genetic theory

2. Enviromental theory

3. Arrest of fetal development in the fibular stage

4. Neurogenic theory

5. Retracting fibrosis (or myofibrosis)

6. Anomalous tendon insertions

PATHOANATOMY

• The most important foot bone central in the pathology of idiopathic

clubfoot is the

talus

PATHOANATOMY

• TALUS: Plantarflexed

Talar neck is medially and plantarly

deflected

• NAVICULAR & CUBOID: Medially

displaced

• CALCANEUM: Adducted and inverted

• Shortening of the fibula is common.

• Shortening of the tibia is also possible.

• MUSCLE: Atrophy of calf and peroneal mm

• TENDON: Contracture of Achilles tendon, tibialis

posterior, FDL, FHL

• LIGAMENT AND CAPSULE: Contracture of

posteriomedial ligament and joint tarsal joint

capsules

PATHOANATOMY

CLASSIFICATION/SCORING

SYSTEM

1. Dimeglio – Scoring Point ranges from 1-20

2. Pirani – More commonly used

Scoring system• Shafiq Pirani devised a scoring system, which

consists of 6 categories, 3 each in the hindfoot and midfoot.

Midfoot score

• Lateral border (CLB) of the foot,

• Medial crease (MC)

• Uncovering of the lateral head of the talus (LHT),

Hindfoot score

• Posterior crease (PC),

• Emptiness of the heel (EH),

• Rigid equinus(RE).

Pirani score

• Each category is scored as 0, 0.5, or 1.

0…………..no abnormality

0.5…………moderate abnormality

1…………...severe abnormality

• The least (best) total score for all categories

combined is 0, and the maximum (worst) score

is 6.

Pirani scoring

Pirani scoring

Clinical presentation

• HISTORY

- Pregnancy hx. –multiple pregnancy, oligohydramnios, intrauterine infection, birth asphyxia, infantile illness.

- History suggestive of congenital anomalies in other parts of the body.

- Immunization history.

- Detailed family history of clubfoot or neuromuscular disorder.

Clinical presentation

• Physical examination

PHYSICAL EXAMINATION- If the child can stand determine if the foot

is plantigrade, if the heel is bearing

weight, and if it is in varus, valgus, or

neutral position.

- Length of foot.

- Other parts of the lower

and upper limbs are examined.

- Examine the back and heart etc

(VACTERL)

INVESTIGATIONS

• Antenatal USS ( 18-20weeks)

- Severity of deformity difficult to determine.

- High false positivity-35%.

• Plain radiographs- talocalcaneal parallelism

Plain radiograph- talocalcaneal parallelism

Other Investigations

• Echocardiogram, radiographs of

other body parts ( in syndromic

clubfoot)

TREATMENT

1. Non operative method

2. Operative method

AIM OF TREATMENT

To achieve painless, plantigrade,

pliable and functional foot

Non operative method

PONSETI METHOD

• Developed by Ignacio Ponseti, of University

of Iowa.

• Currently, most universally accepted method

of treatment

• It involves serial manipulation and casting

with POP.

PONSETI METHOD

• ORDER OF CORRECTION OF THE

DEFORMITY:

1. Correction of cavus deformity: by

elevation of the 1st toe ray

2. Simultaneous correction of adduction

and varus

3. Correction of ankle equinus

PONSETI METHOD

• Percutaneous Achilles tenotomy

required is about 85% of cases to

achieve adequate dorsiflexion

INDICATION:

• Ankle dorsiflexion less than 10

degrees after correction of other

deformities

PONSETI METHOD

• Post tenotomoy cast lasts for 3 weeks

• Followed by wearing of foot

abduction brace (FAB)

PROTOCOL FOR WEARING FAB:

• 24 hours for the first 3 months

• Every night till the child is 3 to 4

years of age

COMPLICATIONS

• Rocker-bottom deformity

• Pressure sores

Operative method

• Soft tissue release- posteriomedial

ligaments and capsule

• Elongation of contracted tendons

• Bony procedures- Osteotomies,

tripple arthrodesis etc.

SUMMARY

• COMMON ORTHOPAEDIC ABNORMALITIES INCLUDE:

• CTEV

• Calcaneovalgus deformity

• Fibular hemimelia

• Syndactyly

• Polydactyly

• Vertical talus

Students should endeavour to have adequate of these conditions especially CTEV.