congenital anomaly2011

8/7/2019 congenital anomaly2011

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General Objective

By the end of the class the student will beable to identify different congenital

anomalies that are present at birth


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Causes of Fetal Malformation

DrugRadiation

VirusesGenetic Traits


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Surgery Related Differences between Young

Children and Adults

The metabolic rate of the infant and

young children is much greater

proportionately than that of adult.

The body tissues of the child heal

quickly because of his rapid rate of

metabolism and growth.


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The child usually needs proportionately less

analgesic than adult patient to obtain relative

comfort after surgical procedures.

The child lacks the reserve physical resources

that are available to the adult. His general

condition may change very rapidly , almost

without warning.

Abnormal fluid loss is more serious in the infant

and young child than in the adult. Fluid intake

and output must be calculated very carefully.


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Some newborns with birthdefects are critically ill.They may need to betransported to medical

centers or specializedpediatric hospitals.

General Aspects of

Pre & Post-Operative Pediatric Care


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Thus if acutely ill infant is to be transferred,

provision should be made to ensurethat the trip will be safe and thatthere will be no appreciable

deterioration of the infants condition


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Safe means of transportation with aheated portable incubator andavailable oxygen supply is needed so asto maintain the infants bodytemperature and O2 therapies in theblood.

Equipment for suctioning to removesecretions is needed (as in esophagealatresia).


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A nurse should participate in the

transfer of the baby to observe himduring that time and give appropriatecare in emergency (e.g. preventtorsion of an omphalocele, proper

position of infant).

All pertinent infant information shouldaccompany the infant as he goes fromone health agency to another


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Pre-operativecare


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Psychological preparation of the child(according to his age). This aimed toprevention of fears common to children likefear of separations, fear of death.

The nurse should explain to the child andhis families what is going to occur.

Except in emergency situations, childrenshould preferably be free of respiratorycomplications and signs of malnutrition.


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Most children must have nothing by mouthbefore surgery but the length of the time

the child remains NPO will depend on age(for newborns and infants 3-4 hours isusually enough).

The incision over or the part involved in

surgery must be washed and inspected.Shaving may be needed.The mouth should be checked for loose

teeth or for dentures (particularly in

children of 6-8 years of age). Any loose ormissing teeth should be charted in thechilds record.


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Remove barrettes and pins from the childs

hair.Clothing should be warm and loose. The

child should be dressed in a hospital gownand under pants only.

Check the childs identification band to seethat is legible and secure. If not it needs tobe replaced prior to surgery.

Pre-medication: sedatives and analgesicsare usually given two hours before surgeryexcept in emergency situation.
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The nurse should chart whether the child

has passed urine and had a bowel movement.Enemas are never done routinely but may beordered in some conditions.

Prior to taking the child to surgery,

especially in newborns and infants, nostrilsshould be carefully cleansed (hard crustsmay be softened with a solution of sodiumbicarbonate, normal saline, or even warm

water). This is necessary to because crustsmay be obstructing the airway.


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The child may need to take his favoritetoy with him to surgery. Ideally, heshould be allowed to keep the toy withhim until he is under the anesthetic.

Parents should be allowed to

accompany their children to theoperation site if they so desire.

Parents should be told where to wait

during the surgery, whether the child willgo to recovery room after surgery ordirectory to his unit.


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After return from the operating room, thechilds general condition must be closely

observed

a) Vital signs, especially temperature.

b) Airway must be kept patent newbornbabies must be kept in warm cot orincubator.


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Unit the child is responsive andalert; he should be kept on his side

(for secretion and vomitus to getout from mouth).

Observe conditions and placementof dressing. Check and mark anyapparent drainage from wound.

Intravenous fluids should bechecked for correct rate of flowand for possible infiltration.


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The child should be carefully handled andshould be protected from harming himself by

use of appropriate restraints.Any urinary catheter should be connected to

drainage bag and stabilized properly to bed.

Observe patients skin color and temperatureas well as any sings of shock :

(a) low blood pressure

(b) rapid pulse

(c) cold moist pale or cyanotic skin

(d) dilated pupils

(e) restlessness.


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For children who can walk, early progressiveambulation is the rule (expect in few cases),

this will help to restore GIT function andprevent complications of pneumonia, thethrombosis, and pressure areas.

If too young to go out of bed, the nurseshould turn the child frequently and give himgood skin care and help him to breath deeplyat intervals.


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It is defined as a structuraldefect present at birth.

Some anomalies arecompatible with life andtreatment could be delayed,

while others are incompatiblewith life and must berepaired immediately


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Gastrointestinal Anomalies


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Anomalies of the Mouth

It is a congenital fissure in the upper lip. It is

generally located at one side or the other of

the midline in the center of the nares. It maybe unilateral or bilateral
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It is incomplete fusion of the palatal shelves.The opening may involve only the soft palate

or the hard palate or both.

It may be a single midline cleft or twobilateral clefts.Cleft palate may occur in connection with

cleft lipCause:Both cleft lip and palate result from failure of

or incomplete union of embryonic structuresof the face.


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Clinical Manifestations

Observable defects.


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Complications associated with cleft lipand cleft palate

Feeding difficulties

Ear infections and hearing loss

Speech and language delayDental problems


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Feeding baby with cleft palate

Breast-feeding is allowed. It will take extra timeand patience.

Hold an infant in an upright position to help

keep the food from coming out of the nose. Small, frequent feedings are recommended.

There are many types of bottles and nipples that

can assist with feeding an infant with cleftpalate.


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NUK nipple

This nipple can be placed on regular bottles oron bottles with disposable bags. The hole canbe made larger by making a criss-cross cut inthe middle.


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Mead Johnson Nurser

This is a soft, plastic bottle that is easy tosqueeze and has a large crosscut nipple.


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Haberman Feeder

This is a specially designed bottle system with avalve to help control the air the baby drinks andto prevent milk from going back into the bottle.


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Neonatal RespiratoryDistress

Congenital

Diaphragmatic Hernia

Oesophageal Atresia with

Tracheoesophageal

Fistula


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Esophageal Atresia and

Tracheoesophageal Fistula: (T.E.F.)

It is congenitalmalformation representa failure of the

esophagus to developa continuous passage.

These defects may

occur separately or incombination.


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Definition Oesophageal atresia is defined: as an

interruption in the continuity of theesophagus with or without fistula to thetrachea.

Tracheoesophageal Fistulais definedas abnormal fistulous communicationbetween the trachea and the esophagus

with Atresia of the esophagus singly or incombination.

Etiology:


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Etiology:

Unknown.


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Types: Oesophageal

Atresia with a distaltracheo-oesophageal fistula

OesophagealAtresia with aproximal fistula


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Oesophageal Atresia: (cont)

Oesophageal atresiacombined with fistulaefrom both

oesophagealsegments

Isolated Oesophageal

Atresia without afistula


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V = Vertebral anomalies

A = Anal anomalies

TE = Tracheoesophageal Fistula

R = Renal deformaties


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Three Cs of TEF on feeding:

Coughing.

Choking.

Cyanosis.

and, regurgitation


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Prematurity and polyhydramnios arecommon association.

Excessive salivation and drooling

Apnea.Increased respiratory distress following

feeding.

Abdominal distention.


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Regurgitation of saliva and milk fromthe obstructed upper pouch into the

trachea.Reflux of acidic content through the

fistula into the lung leading to

pneumoniatis.Gastric distention by air from trachea

leading to diaphragmatic elevation.


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Insertion of catheter gently into theesophagus meets with resistance if the

lumen is blocked but passes unobstructed ifthe lumen is patent.

Radiographic visualization of opaque

catheter inserted into the hypopharynxhelps to determine patency and / oralternate channels.

Endoscopy for isolated fistula.


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Anastmosis Leakage ,Strictureand recurrent.

Pleural

Pnumothorax andempyema.

Dysphagia From disorderedesophageal peristalsis.


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Congenital Diaphragmatic Hernia


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The cause of CDH is largelyunknown.

CDH can occur as part of amultiple malformation

syndrome in up to 40% ofinfants (cardiovascular,genitourinary, and

gastrointestinal malformations)


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Congenital diaphragmatic hernia

(CDH) is a malformation

characterized by a defect in the

Posterolateral diaphragm,

through which the abdominal

viscera migrate into the chest

during fetal life.


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Most common type due to early reduction of

physiological hernia (normal at the 10th week)

before closure of the foramen of Bochdalek by

the pleuroperitoneal membrane at the 8th

week.

It is more common on the Lt. Side because the

left side usually closes later than the Rt. Side

does. The sac is absent in 90% of cases.

Wh t i it?


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What is it?1) Failure of diaphragmatic fusion

2) Herniation of abdominal contents intothoracic cavity

3) Pulmonary hypoplasia

Wh t i it?


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What is it?


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DiagnosisDiagnosis of CDH is made postnatally byplainradiography of the chest and abdomen bydemonstration of:

Air-filled loops of the bowel in the chest and apaucity of gas in the abdomen.

The diaphragmatic margin is absent,

There is a mediastinal shift to the opposite side andonly a small portion of the lung may be seen on theipsilateral side.


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Diagnosis left-sided CDH

Radiograph in a male neonate shows the tip(large arrow) of the nasogastric tubepositioned in the left hemithorax. Note themarked apex leftward angulation of theumbilical venous catheter (small arrow).


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Clinical Picture

oPostnatally, the most severely affectedbabies present with

Respiratory Distress

ocyanosis, tachypnoea and sternal

recession at birth.oOther infants Grunting respirations

within minutes or hours after birth.


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Physical examination reveals:

Ascaphoid abdomen.

An increased antero-posterior diameterof the thorax and mediastinal shift.

Breath sounds are absent on the affectedside.

Initial Management


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Initial Management

Goal: oxygenate, avoid barotraumaIntubated: conventional mechanicalventilation

NGT for decompression

Preoperative measures:


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Preoperative measures:

O2 administration to decrease R.D. andcyanosis.

Stomach decompression.

Adequate hydration.


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Treatment

Immediate surgical repair isindicated because of the

severe life threateningrespiratory distressassociated with the

condition.

Operation:


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Operation:

The content are reduced, the sac is

removed if present.

The defect is closed with nonabsorbable sutures and if large canuse a mesh.


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Operative approach


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Post operative care:

O2 tent

Frequent change s in position withpharyngeal aspiration.

I.V. fluids till effective peristalsis returns.

3 Anomalies


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3.Anomalies

of the

Stomach

and

Duodenum


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Hypertrophic PyloricStenosis


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It occurs when there ishypertrophy of the circular muscle ofthe pylorus leads to constriction of the

pyloric canal and obstruction of thegastric outlet

P th h i l


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Pathophysiology:

The circular muscle of the pylorus is grossly enlargedas a result of both hypertrophy (increased size) andhyperplasia (increased mass).

This produces severe narrowing of the pyloric canalbetween the stomach and the duodenum.

Consequently, the lumen at this point is partiallyobstructed over a period of time, inflammation andedema further reduce the size of the opening untilthe partial obstruction may progress to completeobstruction.


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Vomiting: usually start in 2nd to 3rd weekof life. And becomes forceful andprojectile.

Hungry and irritable later becomelethargic.

Dehydration.

Malnutrition.Constipation.

Loss of skin turgor.


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1.Palpable olive like mass in right upper

quadrant.

2.Visible, peristaltic waves usually form

the left to right.

3.Radiographic or ultrasound revealed

hypertrophied pyloric muscle.

4.Narrow pyloric sphincter revealed in

barium swallow. (Positive string sign).


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There is congenital absence of

parasympathetic ganglion nerve cells ofa part of intestine usually in the distal endof the descending colon.
http://www.netterimages.com/image/2134.htm


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Vary according to:

Age when symptoms are recognized.

The length of the affected bowel. Occurrence of complication, i.e.,

entrocolitis.


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In the newborn:

The primary signs and symptoms are:

Failure to pass meconium within 24 48hrs after birth.

Food refusal.

Vomiting.


During infancy:


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Inadequate weight gain. Constipation.


Explosive watery diarrhea. Episodes of diarrhea and vomiting.

Bloody diarrhea, fever and severe lethargyare ominous signs because they signify the

presence of enterocolitis

During childhood:


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Constipation. Passage of ribbon like, foul smelling stool.


Fecal impaction recurs frequently. Poor appetite, poor growth


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In neonate: diagnosis is usually based onclinical signs of intestinal obstruction and

failure to pass meconium. On examination, the rectum is empty of

feces, the internal sphincter is tight andleakage of liquid stool.

Barium enema and rectal biopsy. Non-invasive procedure may be used as

anorectal manometry.


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Therapeutic Management:

Treatment is primarily surgical removal ofAganglionic portions of the bowel inorder to permit normal bowel motilityand establish continence by improvedfunctioning of the internal analsphincter.


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Acquired Intestinal Defect


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Acquired Intestinal DefectIntussusception

It is an acquired typeof intestinalobstruction. It is theinvagination ortelescoping of asegment of intestineinto the segment

immediately distal toit.

I id


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Incidence:

Intussusception is one of the mostfrequent causes of intestinal obstructions

in children between the ages of 3 monthsand 5 years. Half of the cases occur inchildren younger than 1 year, and most of

the others occur in children during thesecond year.

Etiology:


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Etiology:

Exact cause of Intussusception is uncertain but there areseveral theories as:

Greater disparity between the size of the ileum andileocecal value in infants is believed to encouragetelescoping at this point.

Distorted peristalsis due to change of diet (weaning).

Enlarged lymph nodes along the G.I.T. that occur withrespiratory infections, cystic fibrosis, foreign bodies, G.Ipolyps.

Hyperperistalsis. Diarrhea, constipation.

Mobile ileocecal junction.

The most common sites:


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The most common sites:

Ileocecal value. (Ileocolic) Ileoileal. Colocolic.
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Sudden acute abdominal pain, whichbecomes progressively more severe.

Child screams and draws the knees

into the chest.Child is healthy and normal

between episodes of pain.

Vomiting.

Lethargy.

Passage of red current jelly stool. (Stoolmixed with blood and mucus)


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mixed with blood and mucus).

Palpable sausage- shaped mass in upperright quadrant.

Empty right lower quadrant (dance sign). Anorexia, discomfort.

Tender, distended abdomen.

Eventually fever, perforation, peritonitisand shock are serious complications ofIntussusception.

Therapeutic Management


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Therapeutic Management:

The initial treatment of choice is non-surgical hydrostatic reduction.

Traditionally by barium enema:

In this procedure, correction of theinvagination is carried out at the sametime as the diagnostic testing.

The force exerted by the flowing barium isusually sufficient to push the invaginatedportion of the bowel into its originalposition.


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Assessment Criteria:


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Assessment Criteria:

Failure to pass meconium stool in the first24 hours after birth.

Absence or stenosis of the anorectalcanal.

Anal membrane.

External fistula to the perineum.

Diagnostic Procedures:


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g

During the initial assessment of thenewborn perineum, which should includedetermination of the rectum patency with

small finger or rectal tube if a lesion issuspected.

X- ray examination.

Ultrasound. Computed tomography scan.


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Omphalocele


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p

There is a sac that covers the defect,which composed of transparent

avascular membrane from which theumbilical cord extends.

Gastrochisis


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It is a congenital defect that differs from

omphalocele in that it is fissure of theabdominal wall to the right of theumbilicus and does not involve the site ofthe insertion of the umbilical cord.

Protrusion of the small intestine and part of
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Protrusion of the small intestine and part oflarge intestine usually accompany it.There is no sac covering the intestine,therefore, the bowel is irritated byamniotic fluid during gestation andbecomes edematous and inflamed.

Umbilical Hernia


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It is protrusion of the omentum and small intestinethrough the imperfect closure or weak umbilicalring, especially when infant cries.

Inguinal Hernia


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It is protrusion of abdominal contents through theinguinal canal into scrotum.
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Post- operative Care:


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Post- operative Care:

Routine post-operative care, in addition to: For omphalocele and gastrochisis, the infant is fed by

peripheral Hyperalimentation Omphalocele infant then fed after that through

gastrostomy (increase amount of glucose water, then

milk).For all cases : Observe are of defect for signs of infection. Maintain clear airway. Change position to prevent atelectasis. Emotional support for parents, especially in case of

omphalocele where the operation is done in steps.

Defect of Respiratory System


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Defect of Respiratory System

1. Choanal Atresia: It is defined as a congenital obstruction of the posterior

nares at the entrance to the naso-pharynx.

It may be unilateral or bilateral

Etiology:
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The obstruction is usually caused by a

membrane, but in rare cases by a boneygrowth.

Assessment

In bilateral obstruction there is mouthbreathing and difficulty in taking feedings.There may be dyspnea because the infantcant obtain enough oxygen.


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Treatment


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Treatment

It should be treated as early as possible

since it is one cause of asphyxia of thenewborn.

If the obstruction is unilateral, the infant

may do well unless infection occurs andpersist on the side opposite theobstruction.

2 Diaphragmatic Hernia


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2. Diaphragmatic Hernia

It is a protrusion of the abdominal viscera, mainly theintestine, through a defect in the diaphragm into thechest cavity. It usually occurs in the left side of the chest.The infant has large chest in comparison with his small

abdomen.

Assessment
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Assessment

The infant usually develops respiratorydistress and possibly cyanosis.

Treatment

Surgery. If operation is not doneimmediately, the prognosis is very poorand the patient will probably die within thefirst month of life.


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Spina Bifida:


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It is a defective closure of the vertebral

column. Whether the defect will havedevastating consequences for the

neonates depends entirely on the siteand the extent of the anomaly.

Spina Bifida Occulta


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Usually the 5th lumber and 1st sacralvertebrae are affected with no protrusionof interspinal contents the spinal cordand its cover the skin over the defectmay reveal a dimple, small fatty mass, ora tuft of hair. The defect is only in thevertebra, the spinal cord and meneiges is

normal and not visible.

Meningocle


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It is a protrusion through the spinal bifida,which forms a soft, saclike appearance alongthe spinal axis and contains spinal fluid andmeninges within the sac and covered with skin.

Meningomyelocele
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It is a more serious defect in which thespinal cord and /or nerve roots as well asmeningoel covering protrude through the

spina bifida. The degree and extent ofneurogenice defect depend on the level

of the defect. The higher the level of the

defect, the greater the defect.

If in the lumbosacral


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If in the lumbosacralarea, the defect is

usually associatedwith a flaccidparalysis of the lowerextremities, absent

sensation to the levelof the lesion, and lossof bowel and bladdercontrol.

Hydrocephalus
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The abnormal increase in cerebrospinal fluid volumewithin the intracranial cavity due to a defect in thecerebrospinal fluid drainage system, intracranialpressure increases, the scalp veins dilate, and the

cranial structure begin to separate

Nursing Management of Meningocele andM i l l
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Meningomyelocele

Nursing Diagnosis: High risk for infection.

High risk for injury.

High risk for skin impaired integrity.

Altered nutrition: Less than bodyrequirements
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Epispadias

Mi t l i l t d d l


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Mieatual opening located on dorsal orsuperior surface of the penis.

Hypospedias

Urethral opening located behind glandspenis or anywhere along ventral (lower)

surface of penile shaft.N .B.: infants with epispadias and

hypospadias should not be circumcised

before repair of the defect because thesurgeon may wish to use apportion ofthe foreskin for plastic repair.

3-Phimosis

Narrowing or stenosis of
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Narrowing or stenosis ofpreputial opening of

foreskin. In Severecases, circumcision orvertical division andtransverse, suturing of

foreskin.4-Hydrocele

Fluid in scrotum.Therapeutic management

is surgical repairindicated if spontaneousresolution notaccomplished in 1 year.

5-Polycystic Kidney:
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The infant has enlarged kidneys filled withcysts at birth. If the condition is bilateralthe infant will not pass urine but if it isunilateral the condition may be missed untillater in life.

6-Wilms Tumor (Ebryoma)
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It is a malignant tumor of the kidney that arisesfrom an embryonic structure present in the childbefore birth; the tumor is felt as an abdominalmass. It is important that the necessary fordiagnosis because handling appears to increasethe danger of metastasis.
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http://images.google.de/imgres?imgurl=http://z.about.com/d/pediatrics/1/0/j/2/clubfoot.jpg&imgrefurl=http://pediatrics.about.com/library/pictures/bl_club_foot.htm&h=567&w=400&sz=39&hl=de&start=5&um=1&tbnid=W_Id9qBzK8zMuM:&tbnh=134&tbnw=95&prev=/images%3Fq%3DClubfoot%26gbv%3D2%26um%3D1%26hl%3Dde%26sa%3DN


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Clubfoot

Flexion at the ankle with inversion ofthe heel and fore foot.

Torticollis

It is a condition in which there is a lateralinclination and a rotation of the headaway from the midline of the body with

limitation of the range of motion of theneck.
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Before cast application Child should be allowed to play with a doll that has a

cast so that he understands what will be done.

The nurse must set up the cast materials and hold theextremity in alignment.

Before the cast is applied, the extremities are checkedfor any abrasions, cuts, or other alterations in skinsurface and other items that might cause constrictionfrom swelling; such objects are removed.

Identification bands are placed on a non-injuredextremity if hospitalization is anticipated.

After cast application

The cast must remain uncovered to allow is


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The cast must remain uncovered to allow isdryness from inside out.

After the cast is applied, the extremities arechecked for any sings of compromise.

Observations such as pain, swelling,

discoloration (pallor or cyanosis) of theexposes portions, lack of pulsation andwarmth, or the inability to move the exposedparts are reported immediately.

T i th hild i l t t t l t
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Turning the child in a plaster cast at leastevery 2 hours to prevent complications fromimmobility.

The body part can be elevated, therebyincreasing venous return.

Periodically the circumscribed blood stainedarea should be outlined with a ball point pento assess the amount of blood.

Parents need instructions on drying andcaring for the cast and checking for signsthat indicate the cast is too tight.


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