Congenital Musculoskeletal

Disorder

Ketut Siki Kawiyana

Blok Lecture SM IV, Feb 26, 2018.
Orthopaedi & Traumatology Deparrtment
Paediatric Orthopaedi Sub Division
Surgery Department, FK UNUD / RSUP Sanglah Denpasar
 INTRODUCTION

 Definition:
Congenital abnormalities may be
defined as: defects in the
development of body form or
function that are present at the time
of birth.
Salter, 1999
Types :
 Localized

 Generalized
Localized Disorder:

 Aplasia / agenesis
 Displasia
 Hypoplasia
 Hyperplasia
 Arrest
 Duplikasi

Salter, 1999.
Generalized Disorder:
 Epiphyseal Growth Disturbance

 Imbalance Bone Metabolism

(resorption and Deposition)

 Elasticity Tissue Disorder

Herring Classification
(2008)
 Malformation
 Deformation
 Disruption
 Displasia
 Incidence :

 Difficult to determine :
- not detectable at birth
- indefinite borderline
 3 % at birth.
 6 % at one year.

(Salter, 1999; Sankar et al, 2009)

Etiology
 Genetic Defects

 Environmental Influences

 Combination Genetic and

Environmental
Early Diagnosis
 “Children is not small human being,
and baby is not small children”
(Sankar et al, 2009)

 Prof. Siffert:“ Orthopaedic Check List”

 Physical Examination from Head to Toe
Type of Disorder
 Localized: Only involved one location

 Generalized: Involved few locations

and could involved Other Organ
System to form Syndrome
Head
 Down syndrome.
* Extra copy chromosome 21
(Trisomi 21).
* Narrow forehead, squinted eyes,
prominent epicantus, pug nose, wide lips,
tongue stuck out
* Abnormal Palmar crease, Clinodactyly,
Joint laxity.
Extracopy Chromosome 21 (Trisomi 21)
Down’s Syndrome
 The Most Common Craniofascial
dysplasia : Apert’s syndrome
(Acrocephalosyndactyly)
* Cone head
* Prominent forehead
* Depression face, prominent eye
and jaw
* Syndactyly
Apert’s Syndrome
(Acrocepalosyndactyly)
 Osteogenesis Imperfecta (Brittle
bone) : bone, teeth, sclera and skin
 Head:
* Blue sclera
*Dentinogenesis imperfecta
Neck and Shoulder
 Congenital Muscular Torticolis

* Tight sternocleido mastoideus

muscle
* Sometimes, lump in the muscle
* Difficult to diagnosis before age
2 years
Congenital
Muscular
Torticolis
Pseudoarthrosis clavicula
Together with face disorder are called :

Craniocleidodisostosis
Upper Extremities
 Hand:
* Congenital trigger thumb.
* Polydactyly.
* Syndactyly.
 Elbow:
* Arthrogryphosis Multiplex Congenital.
* Congenital Dislocation Head of Radius.
Congenital Trigger Thumb
SYNDACTYLY
POLIDACTYLY
Congenital dyslocation head of Radius
Lower Arm

 Radioulnar Synostosis
Lower Arm
 Radial Deficiency (Radial Club Hand)
Spine
 Generally divide into:
* Agenesis

* Dysgenesis

* Dysraphism
(Solomon et al, 2001)
Klippel-Feil Syndrome
(Congenital Short Neck)
 Short space between hair
and neck(brevicolli).

 Unsegemented Vertebral
collumn

 Prominent M. trapezius,
webbing base of the neck
Unsegmented Vertebrae Collumn
Webbing in the base of the neck
Sprengel’s deformity
 Failure Scapular
Migration

 Small and high

Scapula position

 Asymmetric
Shoulder
 Sprengle’s Deformity

High Scapula
CONGENITAL SCOLIOSIS
 CONGENITAL SCOLIOSIS
 Overview (epidemiology)
 GeneticsNo specific inheritance pattern
 Pathoanatomy
 Congenital scoliosis
 failure of formation
 failure of segmentation
 Mixed
 Thoracic insufficiency syndrome (TIS)
associated with:
 substantial scoliosis (idiopathic or congenital)
 a shortened thorax
 rib fusions or rib aplasia
 poor rib growth (Jeunes syndrome).
CONGENITAL SCOLIOSIS
 CONGENITAL SCOLIOSIS
 Evaluation
 Associated systemic abnormalities:
 Congenital heart defects (26%)
 Congenital urogenital defects (21%)
 Limb abnormalities (hip dysplasia, limb hypoplasia,
Sprengel deformity)
 Anal atresia
 Hearing deficits
 Facial asymmetry
 Workup : MRI / ultrasonography and cardiologic
evaluation
 CONGENITAL SCOLIOSIS
 Treatment
 Nonsurgical  (-)
 Surgical
 Indications
 Substantial progression of scoliosis
 High risk of progression
 Neurologic deficit
 Contraindications
 Poor skin at the surgical site
 Minimal soft-tissue coverage of the spine
 Substantial medical comorbidities
 CONGENITAL SCOLIOSIS
 Complications
 Iatrogenic shortening of the spinal column
due to fusion
 Neurologic deficit
 Soft-tissue problems over spinal implants
 Continued progression of a scoliotic curve and
crankshaft deformity
SPINA BIFIDA
Spina bifida
Lower Extremities
 Hip Congenital Disorder
* DDH (Developmental Displasia or
Dislocation of Hip).
- Asymmetric thigh skin folds.
- Galeazzi sign.
- Ortholani and Barlow Test
Pathology of DDH
 • Ortolani sign
reducible dislocated hip

 Limitation passive abduction

 Skin creases
 Birth to three month

 Barlow provocation
test
detect dislocatable hip
Galeazzi sign
• Push-pull manouver (telescoping)
Perkin’ line

Acetabular
Hilgenreiner’s
angle
line

Shenton’s
line
 Treatment :
gentle reduction
maintenance the flexion and abduction
hip on Pavlik harness for about 4
months
 Treatment :
- Pavlik harness.
- Continuous traction
Hip Spica
adductor tenotomy
closed reduction under GA
hip spica cast for 6 months
 Eighteen month to five years
 Trendelenburg
sign
 Bilateral : waddling
gait
 Treatment :
longer period of traction
adductor tenotomy
open reduction and bony procedure
 Over five years
 Palliative and salvage operative procedure
Salter Osteotomy
 Femoral Disorder
* PFFD (Proximal Femur Focal
Deficiency)
- Disorder of part or all of the
femur part
- Causing Length Leg Discrepancy
Aitkin Classification
Aitkin’s Classification
 Knee Disorder

* Arthrogryphosis Multiplex
Congenital.

* Habitual dislocation of the Patella.

Arthrogryposis
Multiplex
Congenital
Habitual Dislocation of Patella
Leg Disorder
 Congenital pseudoarthrosis
tibia.
* Very Rare.
* Angulation deformity due
to non union.
* Café-au-lait spot
neurofibromatosis.
 Absence of fibula.

* usually with ray

amputation lateral side
Radiologic before and after treatment
 Ankle and Foot Disorder
* CTEV (Congenital Talipes Equino
Varus)
* Adductus fore foot, inversion &
varus hind foot, equinus talocrural.
* Differential Diagnosis
Arthrogryposis Multiplex
Congenital, Congenital contriction
band, Meningo myelocele.
 Etiology and Pathology:
Remain unsolved
Handelsman suggest a neuromuscular cause
Early stages of embryonic development

Soft tissue contracture :

- post and med aspect muscle
- fibrous capsule
Cavus
Adduksi
Varus
Equinus
 Treatment:

General principles of treatment:

 gentle passive correction

within the first few days of life

from forefoot adduction, heel varus,
ankle equinuus.
Ponseti technique

Cavus
Adduksi
Varus
Equinus
CTEV Patient
Serial Cast “Ponsetti Technique”
Serial Cast
Dennis Brown Splint
Ankle Foot Orthosis
 Operation
 ATL (Achilles tendon lengthening):
percutaneous or open
 PMR (Postero medial soft tissue
release)
 Osteotomies of the bone
 Arthrodesis of joint (Triple
arthrodesis)
Operation
Generalized Disorder
 1. Osteogenesis Imperfecta
(Fragilitas Osseum = Brittle Bones).
* Quite Common
* Abnormal Synthesis of Type 1 Collagen
* Bone, teeth, sclera, skin disorder
* Osteopenia/Osteoporosis and prone to
fracture
Osteogenesis Imperfecta
Blue Sclerae
Pathological Fracture
Dentinogenesis Imperfecta
2. Achondrplasia
(Chondrodystrophia Fetalis)
 Growth longitudinal
Defect from
epiphyseal
plate(achondroplasia).

 Autosomal
dominant
 Visible after age 4-
5
 Disproportionate
between leg and
body
3. Multiple Hereditary
Exostoses (Diaphyseal Aclasis)
 Multiple
osteochodrome on
Metaphysis Long Bone

 Autosomal Dominant
Genetic Disorder

 Decrease Osteoclast
Activity in bone
remodelling process
Diaphyseal Aclasis
4. Arachnodactyly
(Hyperchondroplasia =
Marfan’s syndrome)
 Excessive Longitudinal
Growth from
epiphyseal plate
(Hyperchondroplasia).

 Excessive extremities
growth without
appropriate body
growth
Arachnodactyly
RESUME
 Orthopaedic check list is a very simple
physical Examination

 Musculoskeletal Congenital Disorder

should be diagnosed early for early
treatment

 Genetic Councelling is necessary

THANK YOU
OM,SANTHY, SANTHY, SANTHY, OM