CONGENITAL MALFORMATIONS

- Many diseases of the skeletal system are congenital, but this does not imply that there are all
genetically determined.
- Most are caused by factors operating during pregnancy, delivery or early infancy.

(1)ACHONDROPLASIA

- Is a congenital and often hereditary skeletal disorder resulting in a unique form of dwarfism or
bone deformity, causing disproportionate shortness of the extremities.
- Adult height is < 4ft.
- This condition is due to failure of the proliferation and column formation of epiphyseal cartilage
cells, this failure thus impairs the longitudinal growth of the tubular bones.
- Severe cases result in fetal or neonatal death.

(A) OSTEOGENESIS IMPERFECTA (BRITTLE BONES, FRAGILITAS OSSIUM)

- Is a rare, heritable, and often congenital disorder or skeletal development.

- Characterized by bone fragility which predisposes the individual to fractures and deformities.
- Sclera appears to be bluish in color.

*divisible into to main groups:

1. OI CONGENITA

- characterized by multiple fractures usually present at or before birth and is often fatal.

2. OI TARDA

- has a less-severe disease expression and is often not apparent by birth.

DIAGNOSIS

- Suggested by the occurrence of bone fractures with little trauma.

- Skin biopsy ( to determine the structure and quantity of type 1 collagen.

TREATMENT

- Maintain a healthy lifestyle

- Avoid smoking
- Care for broken bones
- Pain medication
- Physical therapy
- Biphosphonates ( ex. Fosamax – to increase bone mass, reduces pain and fracture. )

NURSING INTERVENTIONS

- Support limbs
- Position the patient with care
- High protein diet to promote healing
 - Encourage fluids to prevent UTI, constipation
- Care for traction, cast, open reduction
- Encourage mobility when possible
- Administer analgesics as prescribed

NURSING DIAGNOSES

- Pain
- Risk for injury
- Impaired physical mobility
- Risk for infection
- Self-care deficit
- Anxiety

(B) OSTEOPETROSIS ( MARBLE BONE DISEASE, OSTEOSCLEROSIS )

- imbalance formation and breakdown of bone causes bones to be overly dense, yet weak and
breaks easily.

- congenital

- excessive bone density interferes vital tissues and organs

Two major types:

1. Malignant infantile
- Evident at or shortly after birth and reduces life expectancy
- Autosomal recessive osteopetrosis
2. Malignant adult
- Milder and may not be diagnosed until adolescent or adulthood
- Autosomal dominant osteopetrosis

CAUSE

- Defects in one or more gene which involves in the formation, function, and development of cells.
(osteocalsts)

SYMPTOMS

- Bone fractures
- Low blood cell levels
- Impaired vision or hearing

DIAGNOSIS

- Hearing or vision test

- Blood tests
 - MRI

TREATMENT

- Children(bone marrow transplant)

- Calcitrol, prednisone, balanced diet, orthopedic care, dental care

(C) HEREDITARY MULTIPLE EXOTOSIS ( OSTEOCHONDROMATOSIS )

- a rare disease that creates and produce a benign change or proliferation in the synovium or joint
lining tissue, which changes to form bone-forming cartilage.

- unknown cause

SIGNS AND SYMPTOMS

- Chronic, progressive pain

- Swelling, stiffness

DIAGNOSIS

- Radiography
- Computed tomography
- MRI

COMPLICATIONS

- Chondrosarcoma ( complication that occurs in chronic cases)

- Tx. Synovial excision and total joint replacement.

TREATMENT

- Asymptomatic patients( no need for theraphy )

- Symptomatic patients ( should undergo arthoscopic or surgical removal of intra-articular bodies

NURSING INTERVENTIONS

- Provide quiet environment to prevent or lessen pain.

- Provide comfort measures (back rub, change position, and use of heat and cold application)
- Encourage diversional activities
- Increase fluid intake
- Rest periods to prevent fatigue
- Assess muscle strength, gross and fine motor coordination.
- Keep side rails up
NURSING DIAGNOSES

- Acute or chronic pain

- Risk for injury: pathologic fracture related to tumor
- Ineffective coping
- Activity intolerance

(2) ENCHONDROMATOSIS ( OLLIER’S DISEASE )

- A rare disorder of the skeletal system

- presence of multiple circumscribed foci masses of cartilage in the interior of bones of performed
proximal to the cartilage, particularly the long and short tubular bones of the extremity.

CLINICAL MANIFESTATIONS

- May occur in early childhood

- Swelling of fingers and toes
- Bine deformity
- Leg length discrepancies
- Pathological fractures due to enchondromas
- Skeletal involvement tends to be greater than one side of the body

CLUB FOOT
- the foot usually appears twisted downward or inward, increasing the arch and turning the heel
inward.
- The affected maybe up to ½ inch shorter than the other foot.
- The foot may be turned so severely that it actually looks like upside down.
- The calf muscles in the affected leg is underdeveloped.
- The cause is unknown.

RISK FACTORS

- Familial
- Congenital conditions
- Environment
TYPES

(1) TALIPES CALCENEO – VALGUS

- Caused by intrauterine molding and the baby is born with the foot dorsiflexed and everted.
- Almost always corrected spontaneously by stretching.
(2) TALIPES EQUINO – VALGUS (VERTICAL TALUS)
- Rare deformity in which the hindfoot is in the equines, the forefoot is dorsiflexed and th tallus is
abnormally vertical. This is a condition which is difficult to treat.
(3) TALIPES EQUINO – VARUS
- Considered to be typical clubfoot. This may be bilateral wherein the whole foot and leg are
shortened.
(4) METATARSUS ABDUCTUS (METATARSUS VARUS)
- Foot is essentially plantigrade, but the forefoot point is inward.
- It may occur as a result of inadequate correction of a talipes-equino varus or as an isolated
deformity.

TREATMENT

- Foot manipulation into slight overcorrection and held with a plaster cast, adhesive strapping or a
malleable splint which can be change every 2-3 days for further manipulation.
- Surgical operation such as postero-medial soft-tissue release in which the tendoachilles and
posterior capsule of the ankle are released, the subtalar join opened and the varus corrected.
- Splintage can be continued after surgery with the use of Denis Browne splint.
- Dilwyn Evan’s bone operation can be done to correct the residual deformity, in which the
calceneo-cuboid joint is excised to produce a lateral fusion.

SPINAL MALFORMATIONS
(1) SPINAL DYSRAPHISM
- Is a condition in which the neural arches fail to form or close posteriorly
- Often associated with abnormal development of the spinal cord.

CAUSES

- Hereditary
- Hormonal imbalance
- Hypervitaminosis

ORTHOPEDIC DIAGNOSIS

- Avoid or correct deformity by splintage or appropriate corrective surgery

- Try to secure muscle balance by partial denervation or tendon transfer
 - Improve mobility by the use of appliances

(2) CONGENITAL SCOLIOSIS

- Lateral curvature of the spine. The more severe curves and those with structural abnormalities
usually progress and become very severe in later childhood.
- An attempt usually made to hold the curve by an external support (Milwaukee brace)

DIAGNOSTIC EXAMS

- Xray
- MRI

(3) CONGENITAL MALFORMATIONOF THE CERVICAL SPINE

- Kippel-feil Syndome in which the cervical vertebrae are performed and often fuses so neck is
shortened.
- This is often associated with elevation of one or both scapulae.

(4) CONGENITAL TORTICOLIS

- Child develops fixed, fusiform, swelling in one sterno-mastoid muscle.
- The tumor subsides but the subsequent fibrosis causes a tilt or rotation of the neck to the
opposite side.

TREATMENT

- Passive stretching

CEREBRAL PALSY
- Is a disorder of movement and posture due to a defect or lesion of the immature brain.
- It is caused by intrauterine development defects, birth trauma.
- It is also essentially a motor disorder but the child frequently has additional disabilities such as
mental defect, blindness, sensory abnormalities, speech defect.
- Voluntary movement of muscles may be weak but capable of contracting slowly.
*the motor defects may take several forms and combination of the following:

1. Spasticity

2. Loss of coordination

3. Rigidity

4. Hypotonicity

ORTHOPEDIC PROBLEMS

1. Paralysis which varies in extent

a. Hemiparesis ( paralysis of arm and leg on one side )
b. Monoparesis ( paralysis of one limb )
c. Di or Paraparesis ( paralysis of both legs )
d. Quadriparesis (paralysis of all four limbs )
2. Spasticity
3. Deformity
4. Incoordination and sensory abnormalities

MANAGEMENT

1. Physiotheraphy
- Assist in assessment
- Prevent or attempt to correct musculo skeletal deformity
- Provide suitable sensory simulation
- Supervise progress and assist parents
2. Surgery which aims to:
- Correct any established deformity ( *soft tissue surgery such as dividing tendons, capsules, skin. )