skeletal malformations

7/27/2019 Skeletal Malformations

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Reported By:

Hermae Angelic E. Guleng


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Congenital Malformation of the

lower extremity that affects the

lower leg, ankle and foot.

Defect may be unilateral and

bilateral

Defects are rigid and cannot be

manipulated into a neutral position.


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Boys are commonly affected.

Genetic factor

Abnormal tendon insertionRetracting fibrosis (myofibrosis)

Neurogenic factors

OligohydramiosDiminished Vascular Circulation


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Plantar flexed foot with an inverted heel and

adducted forefoot,

Unilateral, bilateral defect

Rigid limb that cannot be manipulated into aneutral position

Clubfoot is distinguished from metatarsus

adductus, non rigid deviation of the forefoot.


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Physical Examination- Twisted footappearance should be assessed and gently

manipulated. If the straightened foot does

not move to a normal position, true clubfootis present.

Radiography- Use of x-rays is definitivediagnosis for clubfoot as it determines

abnormal bone anatomy and assesses thetreatment efficiency.


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CLUB FOOT


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Categories of treatment:

For mild cases: manipulation, cast and

splint application (nonsurgical

management)

For severe cases: surgery


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Ponseti Method Applies certain techniques to reduceand correct the deformity to promote normal foot

mobility and position. Methods used are the following

Manipulation - Slightly pivoting the bones andstretching the soft tissue

Placement of above the knee cast

Denis Brown Splints (shoes or boots attached to a bar)are used 23 hours each day for 3 months to maintain

the normal foot alignment. For the next 2-4 years the

splint is fitted during naps and nighttime only.Passive

foot exercises (full range-of-motion) are executed by

the primary caregiver to further maintain the position.


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ABOVE THE KNEE CAST


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DENIS BROWN SPLINT


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Ilizarov TechniqueMethod used forcomplex ankle-foot deformity. Ilizarovframes, the circular structure placed around

the limb, are used in this technique whichare attached to metal pins and are inserted

through the bone. A frame is individually

made for each patient and weighs

approximately 7 lbs. Placement of the frame

requires the administration of a general

anesthetic and the procedure may last for

several hours


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ILIZAROVE FRAME


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Posteromedial Release- The last option for aclubfoot is the release of all tight tendons

and ligaments in the posterior and medial

parts of the foot. The structures are then put

back together in a lengthened position.

Tendon Transplant- Done at 4-7 years of agewhen other corrective measures have been

ineffective.


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Obtain a family and obstetric history for riskfactors.

After delivery, assess the ankle and foot for atrue talipes deformity by straightening the foot.

Pseudo-talipes can be realigned to a normalposition.

For infants with cast assess for circulation,redness and swelling distal from the cast and

foul odor.Monitor the infants temperature (for those who

underwent tenotomy or surgery). Fever is thefirst sign of infection


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Keep the cast clean and dry by changing

diapers frequently. Use a damp cloth and dry

cleansers in wiping. Water and soap causes

breakdown of cast particles.

Place a pillow or padding under the casted

area to prevent cast damage and prevent

sores from heel pressure.

For children with traction, check and cleansethe pin sites frequently.

Explain to the parents the importance of

passive foot exercises after the final cast is

removed.


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Maintaining the aligned position after the castapplication is essential to prevent reoccurrence.

Administer analgesics as ordered for pain relief

after a surgical correction.

Assess the neurovascular status of the toes atleast every 1-2 hours in the immediate post

operative period.

Acetaminophen (Tylenol) is an analgesic and

antipyretic given for pain relief after traction ortenotomy.

Execution of passive foot exercises several times

a day for several months to maintain the

corrected foot alignment.


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Condition in which the head of the femur is

improperly seated in the acetabulum of tbhe

pelvis

Varies in severity from very mild to severedislocation

Dysplasia can be congenital or can develop

after birth (developmental dysplasia)


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CONGENITAL HIP DYSPLASIA


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Genetic Factors and pre-natal/post-natal

positioning seem to be implicated

Laxity of the ligaments holding the femur

head within the acetabulum may be underlying predisposing factor

Family history of the disorder is the most

significant predisposing factor

Most common in first born infantsCondition is associated with breech

deliveries.


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There is a limited range of motion in the

affected hip, as well as asymmetric

abduction when the child is placed supine

with the knees and hips flexed.The femur on the affected side appears to

be short

The walking child displays minimal to

pronounced variations in gait, with

lurching toward the affected side


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After 3 months of age, the affected leg may

turn outward or be shorter than the other

leg.

Neonates- laxity of ligaments around thehips, which allows the femoral head to bedisplaced from the acetabulum on

manipulation.


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Infants beyond the newborn period

a. Assymetry of the gluteal and thigh

skinfolds when the child is placed prone and

the legs are extended against the examiningtable.

b. Limited range of motion in affected hip

c. abduction on the affected side is the majordiagnostic sign

d. apparent short femur on the affected side.


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Ortolani Test- A positive sign is a distinctive'clunk' which can be heard and felt as thefemoral head relocates anteriorly into theacetabulum

Barlow ManeuverRadiography- not useful in neonate because

bony ossification is not complete, but it canbe diagnostic in older infant.

Ultrasonography- best done when the infantis 4 to 6 weeks old, now used to assist withthe diagnosis of hip dysplasia.

Computed Tomography (CT) / MRI


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PAVLIK HARNESS


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SPICA CAST


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6 months to 2 years- The child is placedunder anesthesia, and the thigh bone is

manipulated into the proper position in the

socket. Open surgery is sometimes necessary.

Afterwards, the child is placed into a body

cast (spica) to maintain the hip position.

Older than 2 years- Deformities may

worsen, making open surgery necessary torealign the hip. Afterwards, the child is

placed into a body cast (spica) to maintain

the hip in the socket.


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Placing rolled cotton diapers or a pillow

between the thighs, thereby keeping the knees

in a frog like position

Maintain proper positioning and alignment tolimit further injury

For infants who have splints, advise parents to

maintain good diaper area care: change diaper

frequently and wash the area Elevating the head of the bed helps urine and

feces to drain downward and away from the

cast.


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Monitor childs neurovascular statusfrequently, and teach the family about thesigns of neurovascular compromise(fever,wound drainage and discomforts are

signs of infection) Expain the importance of feeding the child a

diet high in fluids, calories, calcium, protein,and fiber

An infant with a Pavlik harness can be fed inthe usual positions with the parent carefullysupporting the lower extremities during thefeeding


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A. PHENYLKETONURIA

Genetic metabolic disorder that results in

central nervous system damage from toxic

levels of phenylalanine in the blood

There is deficiency of phenylalanine

hydroxylase, enzyme needed to convert

phenylalanine to tyrosine.


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Autosomal recessive disorder manifested only

on homozygote (individual who inherited 2

identical genes for specific trait)

With both parents carrying the recessive

gene, each pregnancy has 25% chance that

the child will have PKU


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Signs may not be apparent until the infant is

approximately 3 mos.

First signs are digestive problems and

vomitingIn all children:

Digestive Problems/vomiting

Seizure

Musty odor of the urine

Mental retardation- Long term implication of

untreated PKU


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Older children

Eczema

Hypertonia

Hypopigmentation of the hair, skin, andiresis

Hyperactive behavior


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Absence of enzyme phenylalanine hydroxylase

Toxic accumulation of Phenylalanine in the

bloodstream after ingestion of proteincontaining phenylalanine Phenylalanine

adversely affect the myelinization process in

CNS development Mental ret5ardation will

progress if treatment is not implemented.

DIAGNOSTIC EVALUATION


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DIAGNOSTIC EVALUATION:

Routine Neonatal screening for PKU

NURSING MANAGEMENT:

Infants and children with PKU are treated with a

special diet that restricts phenylalanine intake.

Goal of treatment is to keep serum

phenylalanine level at 2-6 mg/dl in infants andyoung children and 2-5 mg/dl in children older

than 12 years.

The infant is fed with low phenylalanine

formula, the child must follow a protein-

restricted diet.

The child avoids high protein foods, such as

meats, fish, eggs, cheese, milk, and legumes.


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Because protein is also present in grains,

low protein breads, cereals and pastas

are used. Dietary staples are vegetables,

fruits and starchesFollow-up is provided for all infants if the

initial screening result is abnormal.


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Is a condition in which the thyroid gland does

not produce sufficient thyroid hormone to

meet the bodys metabolic needs.

The condition is present from birth and if not

treated, can lead to mental retardation.


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It is caused by an absent (aplastic),

underdeveloped, or ectopic thyroid gland

For unknown reason, the fetal thyroid gland

fails to developed properly or fails to migrateto the appropriate location

Rare causes are hypothalamic or pituitary

disorders in which TSH is insufficient to

stimulate the thyroid glandMaternal intake of medication such as

prophylthiouracil (PTU) during pregnancy


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Skin mottling, large fontanel, large tongue,

hypotonia, slow reflexes and distended

abdomen

Jaundice, lethargy, constipation, feedingproblems, coldness to touch, umbilical

hernia, hoarse cry, and excessive sleeping.

The infant with congenital hypothyroidism

may have none of these signs or symptoms,


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DIAGNOSTIC EVALUATION:

Usually diagnosed with new born screening

NURSING MANAGEMENT:

Treatment of Children with congenital

Hypothyroidism consists of lifelong thyroid

hormone replacement, usually in the form of

levothyroxine

It is given as a single daily oral dose that varies

with body size.

In general , infants with hypothyroidism are

evaluated every 1 to 2 months for the first yearof life and then every 3 to 6 months thereafter.

The nurse should obtain accurate measurements

of height, weight, and head circumference at

each visit


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Levothyroxine is given orally as a single daily

dose. The medication can be dissolved in a

small amount of water and is given by

syringe or placed into the nipple of a baby

bottle along with a small amount of formula.

When the infant is older, the medication can

be given in a spoonful of cereal or baby food

If the infant or child vomits within 1 hour oftaking medication, the dose should be

readministred

Teach the parents the signs and symptoms of

both hypothyroidism and hyperthyroidism.


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Galactosemia is a condition that affects the bodys

ability to use or metabolize a simple sugar calledgalactose resulting in the accumulation of

galactose 1-phosphate in the body

ETIOLOGY:

Galactosemia is a hereditary condition, caused bythe lack of a liver enzyme that is required to

metabolize Galactose

his genetic disorder is transmitted as an autosomal

recessive disease (a disease caused by the presence

of two recessive mutant genes on an autosome)

and is present in 1 out of 30,000 newborns.


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Jaundice, Vomiting , Poor feeding (baby refusing

to drink milk-containing formula) , Poor weight

gain , Lethargy, Irritability , Convulsions

Infants with Galactosemia will develop most ofthe above symptoms within days of drinking milk.

Continued intake of milk and lactose products

will lead to further complications such as liver

cirrhosis, cataract in the eyes, damage to thekidney, and even the brain may be affected

leaving the child mentally retarded


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Classic Galactosemia- Excess galactose inthe blood affects many parts of the

body. Some of the organs that may be

affected include the brain, eyes, liver and

kidneys

Mild Galactosemia- Children with mildgalactosemia usually have symptoms that are

less severe than seen in the classic

form. Some have no symptoms at all and do

not need treatment


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Newborn screening test

Enzyme activity in red blood cell canconfirm the diagnosis


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Classic galactosemia requires early and

lifelong lactose restriction

Restrict diet of infant to soy formulas as

soon as possible Avoid products containing casein

hydrolysates (components in milk-based

formulas) because theycontain small

quantities of bioavailable lactose galactosemia can be treated with galactose

restriction in the first year of life


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The infant must have a Lactose and galactose free

dietNewborns with galactosemia are given a special

formula free of lactose

Since children with galactosemia are not eating

milk products, calcium intake may be too

low. Therefore, children with galactosemia are

often advised to take calcium supplements to

ensure they receive enough calcium each day.

Babies and young children with galactosemia

usually need regular blood and urine tests. These

tests are used to detect toxic substances made

when galactosemia is not in good control.


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This condition mainly affects red blood

cells, which carry oxygen from the lungs

to tissues throughout the body. Inaffected individuals

Defect in an enzyme called glucose-6-

phosphate dehydrogenase causes red

blood cells to break down prematurely


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Hereditary, commonly male are affected (X-

linked)

Environmental factors (Medications, Food,

Ilness)


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Hemolytic Anemia

Paleness, dizziness, headache, tea-coloredurine, abdominal/back pain, difficulty of

breathing

Severe cases can lead to death

Jaundice, mental retardation, enlarged spleen,kernicterus,

DIAGNOSTIC TEST

Coombs test- Coombs' test looks for antibodies

that may bind to red blood cells and causepremature red blood cell destruction (hemolysis)


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The first line of treatment for most infants with

jaundice requiring intervention is phototherapy.The infant receiving phototherapy requires extra

attention and care to the placement of lights to

be therapeutic yet prevent chilling or burning

the infant

The most important measure is prevention -

avoidance of the drugs and foods that cause

hemolysis.

Vaccination against some common pathogens (

hepatitis A and hepatitis B) may prevent

infection-induced attacks.


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In the acute phase of hemolysis, blood transfusionsmight be necessary, or even dialysis in acute rena

failure.

Serum bilirubin levels above 25 mg/dL or higher at any

time is a medical emergency and the infant should beevaluated immediately for exchange transfusion

Blood transfusion is an important symptomatic

measure, as the transfused red cells are generally not

G6PD deficient and will live a normal lifespan in therecipient's circulation.

Some patients may benefit from removal of the spleen

(splenectomy) as this is an important site of red cell

destruction.


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A. Syndactyl

Syndactyly, the most common congenital

hand anomaly, is an abnormal connection of

fingers or toes to one anotherthe digits are

"webbed," and have failed to separate

normally during development

It most commonly involves the middle and

ring fingers. In about 50% of cases, bothhands are involved.

Syndactyly may occur alone, or with other

anomalies as part of a syndrome.


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The exact cause of the condition is

unknown

In some cases, close family members may

share this condition.Syndactyly occurs when apotosis or

programmed cell death during gestation is

absent or incomplete.


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Complete syndactyly occurs when the digitsare joined all the way to their tips, while in

incomplete syndactyly, the digits are joined

only for part of their length

Simple syndactyly means that the digits arejoined by the skin and soft tissue only

Complex syndactyly means that the bones of

the digits are fused together


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Syndactyly is treated surgically, with anoperation that separates the digits using skin

from the digits and, usually, skin grafts from

the lower abdomen to cover the separated

fingersWhen the small finger or thumb is involved,

this operation is done at about six months of

age, to avoid distortion of the adjacent ring

or index finger with growth, since the thumband small finer are shorter than their

neighboring digits


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Polydactyly literally means "extra digits."

There is an extra thumb, small finger, or,

less commonly, an extra digit in the central

part of the hand.

Polydactyly is one of the most common

congenital hand anomalies.


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Polydactyly occurs when this separation

process is excessive, and an extra "segment"

is created.

This can be caused by a genetic abnormality

or by environmental influences.


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Radial, or pre-axial polydactyly - meansthat there is an extra thumb

Ulnar, or post-axial polydactyly- meansthat there is an extra small finger; there may

be a well-formed extra small finger, or just a

poorly-formed extra digit attached by a thin

stalk of soft tissue.

Central polydactyly- means that the extradigit is in the central part of the hand,between the thumb and small finger.


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RADIAL, OR PRE-AXIAL

POLYDACTYLY


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ULNAR, OR POST-AXIAL

POLYDACTYLY


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CENTRAL POLYDACTYLY


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Polydactyly is treated surgically. In preaxial

polydactyly, a single thumb must bereconstructed from the two duplicated, or

split, thumbs. This procedure involves

reconstructing the skin and soft tissues, the

tendons, joints, and ligaments to create a

single thumb.

In postaxial polydactyly, when the extra digit

is attached only by a narrow stalk of soft

tissue, this may be removed either with aminor operation or, if the stalk is narrow

enough, by ligating the stalk in the nursery.


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When the extra digit is well-formed, thesurgery is more involved and may involve

reconstruction of soft tissues, tendons,

joints, and ligaments as in preaxial

polydactyly.

Central polydactyly requires a complex

surgical procedure to reconstruct the hand.

Again, the soft tissues, tendons, ligaments,

and joints must be reconstructed. In some of

these cases, more than one operation is

required.

skeletal malformations

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