Musculoskeletal System

Congenital Abnormalities

BY:
EUGENE PITT

TORTICOLLIS

Torticollis

Definition Torticollis
A

twisted neck in which the head is tipped

to one side, while the chin is turned to the
other.

Also

known as WRY NECK

Torticollis

is a form of DYSTONIA (prolonged

muscle contractions) in which the neck
muscles, particularly the
STERNOCLEIDOMASTOID MUSCLE, contract
involuntarily causing the head to turn.

Definition Torticollis
Torticollis

may occur without known

cause (idiopathic), be genetic
(inherited), or be acquired secondary
to damage to the nervous system or
muscles.

This

condition can also be found in

new born babies and is called,
CONGENITAL TORTICOLLIS

Definition Torticollis
Torticollis

may be:
Inherited: Due to faulty genes
Acquired: Develops as a result of
damage to the nervous system or
muscles

If

the condition occurs without a

known cause, it is called idiopathic
torticollis.

Definition Torticollis
Torticollis

may develop in childhood or

adulthood.
Congenital Torticollis (present at
birth) may occur if the fetus' head is
in the wrong position while growing
in the womb, or if the muscles or
blood supply to the fetus' neck are
injured.

Signs and Symptoms Torticollis

Limited Range Of Motion

Headache
Head

Tremor

Neck

pain

Shoulder

body

is higher on one side of the

Signs and Symptoms Torticollis

Stiffness of neck muscles

Swelling

of the neck muscles (possibly

present at birth)

Diagnostic Examination Tortocollis

Physical

Examination
This will show a visible shortening of
the neck muscles and the head will
tilt toward the affected side while the
chin points to the opposite side.

Treatment Torticollis
Congenital

Torticollis Treatment
Passive stretching and positioning are
treatments used in infants and small
children.
Such treatments are often successful,
especially if started within 3 months of
birth.

Surgery

to correct the neck muscle may

be done in the preschool years, if other
treatment methods fail.

Treatment Torticollis
Acquired

Torticollis Treatment
Application of heat, traction to the
cervical spine, and massage may
help relieve head and neck pain.
Stretching exercises may help with
muscle spasms.

Treatment Torticollis
Anticholinergic

drug called BACLOFEN

is given to the patient with Torticollis.

Injection

of BOTULINUM TOXIN can

temporarily relieve the torticollis, but
repeat injections every 3 months are
usually need.

Objective:

TO DISCUSS ABOUT

DISLOCATION
OF HIP

Definition Dislocation of
Hip

A condition that can be congenital or

acquired. Congenital hip dislocations are
much more common in girls than in boys.

Congenital

Hip Dislocation
The abnormal formation of the hip joint
in which the ball at the top of the
thighbone (the femoral head) is not
stable within the socket (the
acetabulum). The ligaments of the hip
joint may also be loose and stretched.

Definition Dislocation of
Hip

Acquired Hip Dislocations

Are extremely painful and commonly
occur during car accidents.
They may be treated by surgical
realignment and traction.

Definition Dislocation of
Hip

Definition Dislocation of
Hip

The degree of instability or looseness

varies. A baby born with this condition
may have the ball of the hip loosely in
the socket (SUBLUXED) or the ball of
the hip may be completely dislocated at
birth.

Untreated,

the condition may cause

legs of different lengths and a "ducklike" walk and lead to pain on walking
and early OSTEOARTHRITIS.

Definition Dislocation of
Hip

Signs and Symptoms

Dislocation of Hip
One

of the early signs that a baby has

been born with a dislocated hip may be a
clicking sound when the baby's legs are
moved apart.

With

a full dislocation, the leg "rides up"

so it is shorter than its mate.

The

buttocks folds also may not be

symmetrical with more creases on the
dislocated side.

Diagnostic Examination
Dislocation of Hip
Physical

Examination

Two

maneuvers commonly employed

for diagnosis in neonatal exams are
the Ortolani maneuver and the Barlow
maneuver.

The

condition can be confirmed by

ultrasound and X-ray

Diagnostic Examination
Dislocation of Hip
GALEAZZI

TEST
Used to assess congenital
dislocation / developmental dysplasia
of the hip.
It is performed by flexing an infant's
knees in the supine position so that
the ankles touch the buttocks.
If the knees are not level then the
test is positive, indicating a potential
congenital hip malformation.

Treatment Dislocation of
Hip

PAVLIK HARNESS
Straps that allow the baby to move
about freely while holding the hip in
place and preventing movements that
would make the condition worse.
In most up to 97% of cases, the Pavlik
Harness is effective. If it is not, the hip
may be positioned into place under
anesthesia (closed reduction)

Treatment Dislocation of
Hip

Objective:

TO DISCUSS ABOUT

TALIPES

Definition Talipes
A

condition in which one or both feet are

twisted into an abnormal position at birth.
The condition is also known as clubfoot.

Obvious

at birth because a clubfoot has a

typical appearance of pointing downward
and being twisted inwards.

Uncorrected

clubfoot in an adult causes

only part of the foot, usually the outer edge
or the heel or the toes, to touch the ground.

Definition Talipes
Four

(4) variations of clubfoot:

Talipes Varus
The most common form of clubfoot,
the foot generally turns inward so that
the leg and foot look somewhat like
the letter J (when looking at the left
foot head-on).
Talipes Valgus
the foot rotates outward like the letter
L.

Definition Talipes
Talipes Equines
The foot points downward, similar
to that of a toe dancer.
Talipes Calcaneus
The foot points upward, with the
heel pointing down.

Definition Talipes

Definition Talipes

Signs and Symptoms

Talipes
The

physical appearance of a clubfoot

may vary. However, at birth, an affected
foot usually turns inward and points
downward.

It

resists realignment

The

calf muscle may be smaller and less

well developed than normal. One or both
feet may be affected.

Diagnostic Examination
Talipes
Clubfoot

is diagnosed by physician
inspection.

Clubfoot

may be suspected during the

latter stages of pregnancy, especially
in a mother of shorter or smaller than
normal stature, a large fetus, or
multiple infants.

Treatment Talipes
When

casting and bracing are not

successful, surgery may be required to
realign the tendons, ligaments, and
joints in the foot and ankle. Such a
procedure is usually completed
between nine and 12 months of age.
After surgery, a cast holds the foot in
the desired position.

Objective:

TO DISCUSS ABOUT

OSTEOGENESIS
IMFERFECTA

Definition
Osteogenesis Imferpecta
A

genetic disorder in which bones

break easily. Can cause weak muscles,
brittle teeth, a curved spine and
hearing loss.

The

cause is a gene defect that affects

how you make collagen, a protein that
helps make bones strong.

Definition
Osteogenesis Imferpecta
There

is no cure, but you can manage

symptoms.

Treatments

include exercise, pain

medicine, physical therapy,
wheelchairs, braces and surgery.

Definition
Osteogenesis Imferpecta
Type

I Osteogenesis Imperfecta

Most common and mildest type of OI

Bones predisposed to fracture (most
fractures occur before puberty)
Normal or near-normal stature
Loose joints and muscle weakness

Definition
Osteogenesis Imferpecta
Blue, purple, or gray tint to sclera
(whites of the eyes)
Triangular face
Tendency toward spinal curvature
Absent or minimal bone deformity
Possible brittle teeth

Definition
Osteogenesis Imferpecta
Possible hearing loss, often
beginning in early twenties or thirties
Normal collagen structure, but less
than normal amount

Definition
Osteogenesis Imferpecta
Type

II Osteogenesis Imferpecta

Most severe form of OI

Frequently causes death at birth or
shortly after, because of respiratory
problems
Numerous fractures and severe bone
deformity

Definition
Osteogenesis Imferpecta
Small stature with underdeveloped
lungs
Blue, purple, or gray tinted sclera
Improperly formed collagen

Diagnostic Examination
Osteogenesis Imferpecta
Clinical

geneticists can perform

biochemical (collagen) or molecular
(DNA) tests that can help confirm a
diagnosis of OI in some situations.

These

tests generally require several

weeks before results are known. Both
the collagen biopsy test and the DNA
test are thought to detect nearly 90
percent of all type 1collagen
mutations.

Diagnostic Examination
Osteogenesis Imferpecta

Diagnostic Examination
Osteogenesis Imferpecta

Diagnostic Examination
Osteogenesis Imferpecta

Treatment
Osteogenesis Imferpecta
There

is no cure for OI yet

Treatment

is directed toward
preventing or controlling the
symptoms, maximizing independent
mobility, and developing optimal bone
mass and muscle strength.

Treatment
Osteogenesis Imferpecta
Care

of fractures, extensive surgical

and dental procedures, and physical
therapy are often recommended for
people with OI.

Use

of wheelchairs, braces, and other

mobility aids is common, particularly
(although not exclusively) among
people with more severe types of OI.

Treatment
Osteogenesis Imferpecta
Doctors

frequently consider a surgical

procedure called rodding for people
with OI.
This treatment involves inserting
metal rods through the length of the
long bones to strengthen them.
The treatment also prevents or
corrects deformities.

QUESTION??