congenital abnormalities

Musculoskeletal System – Musculoskeletal System – Congenital AbnormalitiesCongenital Abnormalities

BY: BY: EUGENE PITTEUGENE PITT

TORTICOLLISTORTICOLLIS

TorticollisTorticollis

Definition – TorticollisDefinition – TorticollisA 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 – TorticollisDefinition – TorticollisTorticollis 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 – TorticollisDefinition – TorticollisTorticollis 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 – TorticollisDefinition – TorticollisTorticollis 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 - Signs and Symptoms - TorticollisTorticollisLimited Range Of Motion

Headache

Head Tremor

Neck pain

Shoulder is higher on one side of the body

Signs and Symptoms - Signs and Symptoms - TorticollisTorticollisStiffness of neck muscles

Swelling of the neck muscles (possibly present at birth)

Diagnostic Examination - Diagnostic Examination - TortocollisTortocollisPhysical 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 – TorticollisTreatment – TorticollisCongenital 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 – TorticollisTreatment – TorticollisAcquired 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 – TorticollisTreatment – TorticollisAnticholinergic 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.

TO DISCUSS ABOUT TO DISCUSS ABOUT DISLOCATION DISLOCATION OF HIPOF HIP

Objective:

Definition – Dislocation of Definition – Dislocation of HipHipA 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 Definition – Dislocation of HipHipAcquired Hip Dislocations

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

realignment and traction.

Definition – Dislocation of Definition – Dislocation of HipHip

Definition – Dislocation of Definition – Dislocation of HipHipThe 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 "duck-like" walk and lead to pain on walking and early OSTEOARTHRITIS.

Definition – Dislocation of Definition – Dislocation of HipHip

Signs and Symptoms – Signs and Symptoms – Dislocation of HipDislocation of HipOne 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 – Diagnostic Examination – Dislocation of Hip 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 – Diagnostic Examination – Dislocation of Hip 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 Treatment – Dislocation of HipHipPAVLIK 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 Treatment – Dislocation of HipHip

TO DISCUSS ABOUT TO DISCUSS ABOUT TALIPESTALIPES

Objective:

Definition – TalipesDefinition – TalipesA 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 – TalipesDefinition – TalipesFour (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 – TalipesDefinition – 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 – TalipesDefinition – Talipes

Definition – TalipesDefinition – Talipes

Signs and Symptoms – Signs and Symptoms – TalipesTalipes

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 – Diagnostic Examination – Talipes 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 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.

TO DISCUSS ABOUT TO DISCUSS ABOUT OSTEOGENESIS OSTEOGENESIS IMFERFECTAIMFERFECTA

Objective:

Definition – Definition – Osteogenesis ImferpectaOsteogenesis 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 – Definition – Osteogenesis ImferpectaOsteogenesis Imferpecta

There is no cure, but you can manage symptoms.

Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.

Definition – Definition – Osteogenesis ImferpectaOsteogenesis 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 – Definition – Osteogenesis ImferpectaOsteogenesis 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 – Definition – Osteogenesis ImferpectaOsteogenesis Imferpecta

◦Possible hearing loss, often beginning in early twenties or thirties

◦Normal collagen structure, but less than normal amount

Definition – Definition – Osteogenesis ImferpectaOsteogenesis 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 – Definition – Osteogenesis ImferpectaOsteogenesis Imferpecta

◦Small stature with underdeveloped lungs

◦Blue, purple, or gray tinted sclera

◦Improperly formed collagen

Diagnostic Examination – Diagnostic Examination – Osteogenesis ImferpectaOsteogenesis 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 – Diagnostic Examination – Osteogenesis ImferpectaOsteogenesis Imferpecta

Diagnostic Examination – Diagnostic Examination – Osteogenesis ImferpectaOsteogenesis Imferpecta

Diagnostic Examination – Diagnostic Examination – Osteogenesis ImferpectaOsteogenesis Imferpecta

Treatment – Treatment – Osteogenesis ImferpectaOsteogenesis 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 – Treatment – Osteogenesis ImferpectaOsteogenesis 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 – Treatment – Osteogenesis ImferpectaOsteogenesis 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.

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