CONGENITAL ANOMALIES

I. INTRODUCTION

The desired and expected outcome of every wanted pregnancy is a normal,

functioning infant with a good intellectual potential. Fulfillment of this hope depends on
numerous hereditary and environmental factors. Congenital anomalies are evident in 2%
to 3% of all live births, but this number increases to 6% by five years of age when more
anomalies are diagnosed.

II. DEFINITION

A physical defect present in a baby at birth that can involve many different parts
of the body, including the brain, heart, lungs, liver, bones, and intestinal tract. ...
Examples include heart defects, cleft lip and palate, spina bifida, limb defects, and Down
syndrome.

III. CAUSE OF FETAL MALFORMATION:

Several factors are known to produces malformation of the developing fetus.

These are environmental factors like use of drugs, radiation, viruses, genetic traits in one
or both parents, and as interaction of the environmental and hereditary influences. Nurses
are mainly concerned with the environmental influences since they are controllable in
many instances so that birth defects can be prevented.

1. Drugs:
Drugs in general carry such a potential for the production of birth defects that their
use during pregnancy is strongly discouraged. Use of street drugs like heroin or hashish
by pregnant women could be responsible for soon congenital anomalies. Alcohol also
appears to influence fetal development and its excessive use during pregnancy can
produce fetal malformations.
2. Radiation:

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 Exposure of the mother to radiation has been shown to cause birth defects, the earlier
in pregnancy the exposure, the more extensive is the fetal damage. Exposure at later
gestational stages may result in less apparent deviations. Atmospheric or
environmental radio contamination also contributes to the risk of fatal deviations (as
in nuclear accidents or testing of nuclear weapons).
3. Viruses:

Like rubella virus (that causes German measles). Weather infection of the mother
during pregnancy procedures deformities in the fetus depends upon the nature of the
infectious organism, the development stage of the fetus at the time it is exposed to the
organism, other factors such as the mother’s antibody titer and other variable not yet
understood.

4. Genetic Traits:

Probably all human characteristics have a genetic component, including those that
produce symptoms or physical abnormalities that impair the fitness of the person.
Some disorder or disease occurs through the influence of a single gene or combined
action of many genes inherited from the parents, others result from the action of the
intrauterine environment that affects the embryonic development.

IV.COMMON CONGENITAL ANOMALIES IN THE NEWBORN:

Definition:

An anomaly is a structural defect present at birth. Some defects may be compatible

with life but need treatment that could be delayed. Others are incompatible with life and
must be repaired immediately

Common anomalies, of the different system are as follows:

A.Respiratory System:
1. Tracheo esophageal Fistula

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 Upper part of esophagus is developed from retropharyngeal segment and the lower
part from pregastric segment of the first part of the primitive gut. At four weeks of
gestation, the laryngotracheal groove is formed. Later, two longitudinal furrows develop
to separate the respiratory primordium from the esophagus. Deviation or altered cellular
growth in this septum results in formation of tracheoesophageal fistulae.

Definition

Tracheoesophageal fistulae is an abnormal connection in one or more places

between the esophagus (the tube that leads from the throat to the stomach) and the
trachea (the tube that leads from the throat to the windpipe and lungs). Normally, the
esophagus and the trachea are two separate tubes that are not connected.

Five types of tracheoesophageal fistulae are recognized.

1. In the most common variety (over 80% of cases), the upper part of the esophagus
ends blindly and the lower part is connected to the trachea by fistula. Incidence is
1 in 4000 live births.
2. In the second type, there is no fistulous connection between either the upper or the
lower part of the esophagus and trachea.
3. In the third variety, there is no esophageal atresia, but there is a fistulous tract
between the trachea and esophagus (H type).
4. The variety in which the upper segment of esophagus opens into trachea in
uncommon.
5. In the least common variety, both segments open into the trachea

Clinical Features

The presence of maternal polyhydrarnnois and single umbilical artery should alert
the pediatrician to look for atresia of the upper digestive tract. Association of congenital
of vertebrae, anorectal region, heart, kidneys or limbs should also arouse suspicion. The
newborn baby has excessive drooling, saliva is frothy and there is choking and cyanosis

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with the first feed. Overflow of milk and saliva from esophagus, and regurgitation of
secretions through the fistulous tract (when present) into the lungs results in pneumonia.

Diagnosis

A large size 8 or 10 Fr plastic orogastric tube cannot be passed into stomach as it

gets arrested at a distance of 7-10 cm from the mouth. A polythene catheter may get
coiled up in the upper pouch of the esophagus. Accumulated secretions aspirated on
suction may be mistaken as stomach contents. The later should have acidic pH. A
skiagram maybe obtained after instilling

1-2 ml of air through the tube or by using catheter with radiopaque end. It is not
advisable to use barium as a contrast material since it may be aspirated in lungs. On X-
ray, an air bubble is seen in the stomach if there is communication between the lower part
of the esophagus and trachea which occurs in the commonest variety of trachea-
esophageal fistula. Lungs show atelectasis or pneumonia in the right upper zone.

Management

The baby should be nursed supine or in an upright position and esophageal pouch
should be gently sucked every five minutes, or continuously using a slow suction device.
Intravenous fluids should be administered and infection, if any should be treated. Surgical
repair should be undertaken as early as possible.

Prognosis

The prognosis is unsatisfactory and depends upon (a) how soon the diagnosis is
made, (b) whether pneumonitis has occurred or not, (c) the size maturity of the baby, (d)
existence of serious anomalies such as congenital heart disease and urogenital defects, (e)
experience of the surgeon and (f) standard medical and nursing care.

2.Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a congenital malformation (birth

defect) of the diaphragm. Diaphragmatic herniaoccurs because of failure of closure of the
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pleuroperitonealmembrane. This allows intestinal loops to ascend to the thorax that
compress the developing lung and can result in pulmonary hypoplasia.

SIGNS AND SYMPTOMS

 Difficulty breathing
 Fast breathing
 Fast heart rate
 Cyanosis (blue color of the skin)
 Abnormal chest development, with one side being larger than the other
 Abdomen that appears caved in (concave)

A baby born with a Morgagni hernia may not show any symptoms.

TREATMENT

Treatment may include:

 Neonatal intensive care

A diaphragmatic hernia is a life-threatening illness and requires care in a neonatal
intensive care unit (NICU).

Ventilation should be maintained by endotracheal tube and assisted respiration by

hand or machine, if spontaneous efforts are weak. Resuscitation with bag and
mask should never be attempted in these cases as it causes gaseous distension of
bowel and respiratory difficulty worsens. The head end should be raised and
stomach contents including air should be aspirated frequently to reduce distension
of the bowel. The infant should preferably be nursed in a lateral decubitus with
affected side down to reduce mediastinal displacement.

 ECHO

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 Some infants may need to be placed on a temporary heart/lungs bypass machine
called ECHO if they have severe problems. ECHO does the job that the heart and
lungs would be doing putting oxygen in the bloodstream and pumping blood to the
body. ECHO may be used temporarily while a baby’s condition stabilizes and
improves.

 Surgery

When the baby’s condition has improved, the diaphragmatic hernia will be
repaired with an operation. The stomach, intestine, and other abdominal organs are
moved from the chest cavity back to the abdominal cavity. The hole in the
diaphragm is repaired.

Many babies will need to remain in the NICU for a while after surgery. Although the
abdominal organs are now in the right place, the lungs still remain underdeveloped. The
baby will usually need to have breathing support for a period of time after operation.
Once the baby no longer needs help from a breathing machine (ventilator), he/she may
still need oxygen and medications to help with breathing for weeks, months, or years.

3.Choanal atresia

Congenital failure of the nasal cavities to open posteriorly into the nasopharynx
(choanae) is called choanal atresia. It is caused by failure of resorption of the
buccopharyngeal membrane during embryonic development. This process may be
unilateral or bilateral. Bilateral choanal atresia usually presents immediately after birth
with respiratory distress, which is due to the fact that neonates are obligate nose
breathers. The affected baby cycle between spells of cyanosis and crying, Attempts at
suckling immediately precipitate cyanosis.

Bilateral choanal atresia requires urgent management. The airway may be

established immediately by inserting a finger in the baby’s mouth; this can be replaced
with a plastic oropharyngeal airways or a McGovern nipple. Failure of these measures to
secure a satisfactory airways may necessitate endotracheal intubation or tracheostomy.
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 Flexible nasal endoscopy confirms the diagnosis. When endoscopy is not
available, attempts to pass an 8 French catheter can aid in diagnosis. Dye or contrast
studies are not routinely used since the advent of endoscopy. A CT scan will demonstrate
the thickness of the atretic plate and whether it is a bony or membranous atresia.

Unilateral choanal atresia is a more indolent process and may present later
in infancy or early childhood with unilateral nasal discharge or blockage. Atresia
typically becomes apparent when the opposite nasal passage becomes blocked due to
rhinitis or adenoid hypertrophy.

Treatment choanal atresia is surgical. The two primary approaches are

transplant and transnasal. Transnasal endoscopic repair is often attempted first as it is less
invasive. Transpalatal repair, which involves removal of the posterior hard palate, is often
reserved for failed endoscopic repair. Stents are placed in the nasal passages to prevent
restenosis, and are typically left in place for 3 to 6 weeks postoperatively.

4.Congenital laryngeal stridor

Congenital laryngeal stridor (also called laryngomalacia) results from a congenital

(present at birth) anomaly of the larynx (voice box). A weakness in the structures in the
larynx, can cause stridor. Stridor is a high-pitched sound that is heard best when the child
breathes in (inspiration).

Causes congenital laryngeal stridor

Congenital laryngeal stridor is a defect that is present at birth. During fetal

development, the structure in the larynx may not fully develop. As a result, there is a
weakness in these structure at birth causing them to collapse during breathing. In
children, congenital laryngeal stridor is the most common cause of chronic stridor. Sixty
percent of infants born with congenital laryngeal stridor will have symptoms in the first
week of life. Most other infants will show symptoms by 5 weeks old.

Signs and symptoms of congenital laryngeal stridor

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 The major symptoms of this disorder is the stridor that is heard as the infant
breathes. The stridor is usually heard when the infant breathes in (inspiration), but can
also be heard when the infant breathes out (expiration). Other characteristics of the stridor
may include: The stridor changes with activity.

 The stridor is present during different phases of alertness – eating, sleeping, or

excitement.
 The stridor is usually less noisy when the child is laying on his/her stomach.
 The stridor gets worse if the infant has an upper respiratory infection.

The symptoms of congenital laryngeal stridor may resemble other conditions or medical
problems. Always consult your child’s physician for a diagnosis.

Diagnosis

In addition to a complete medical history and physical examination, diagnostic

procedures for congenital laryngeal stridor may include laryngoscopy or bronchoscopy of
the airways – a procedure which involves a tube being passed into the airways to allow
your child’s physician to observe the airways during breathing.

A team of doctors and other specialists is usually involved in the care of these children.
Members of cleft lip and palate team typically include:

 Plastic surgeon to evaluate and perform necessary surgeries on the lip and/or
palate
 An otolaryngologist (an ear, nose, and throat doctor) to evaluate hearing
problems and consider treatment options for hearing problems
 An oral surgeon to reposition segments of the upper jaw when needed, to
improve function and appearance and to repair the cleft of the gum
 An orthodontist to straighten and reposition teeth
 A dentist to perform routine dental care

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  A prosthodontist to make artificial teeth and dental appliances to improve the
appearance and to meet functional requirements for eating and speaking
 A speech pathologist to assess speech and feeding problems
 A speech therapist to work with the child to improve speech
 An audiologist (a specialist in communication disorders stemming from a hearing
impairment); to assess and monitor hearing
 A nurse coordinator to provide ongoing supervision of the child’s health
 A social worker/psychologist to support the family and assess any adjustment
problems
 A geneticist to help parents and adult patients understand the chances of having
more children with these conditions.

The health can team work together to develop a plan of care to meet the
individual needs of each patient. Treatment usually begins in infancy and
often continues through early adulthood.

B.Anomalies of the Stomach and Duodenum:

Pyloric Stenosis: Pyloric Stenosis, also called infantile hypertrophic pyloric

stenosis, is a condition caused by an enlarged pylorus. It is hypertrophy of the muscle
surrounding the pylorus that leads to narrowing of the pyloric canal and makes it difficult
for the stomach to empty. It occurs mainly in male infants.

Signs and Symptoms:

 Projectile vomiting: Pyloric stenosis often causes projectile vomiting – the

forceful ejection of milk or formula up to several feet away. Vomiting occurs
within 30 minutes after baby eats. Vomiting may be mild at first and gradually
become more severe as the pylorus opening narrows. The vomit may sometimes
contain blood.

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  Persistent hunger: Babies who have pyloric stenosis often want to eat soon after
vomiting.
 Stomach contractions: Wave-like contraction (peristalsis) that ripple across your
baby’s upper abdomen soon after feeding but before vomiting. This is caused by
stomach muscles trying to force food through the narrowed pylorus.
 Dehydration: Baby may cry without tears or become lethargic. You may find
yourself changing fewer wet diapers or diapers that aren’t as wet as you expect.
 Changes in bowel movement: Since pyloric stenosis prevents food from reaching
the intestines, babies with this condition may be constipated.

Weight problems: Pyloric stenosis can keep a baby from gaining weight, and
sometimes can cause weight loss.

Diagnostic Evaluation:

1. Palpable olive like mass in right upper quadrant.

2. Visible, peristaltic waves usually from the left to right.
3. Radiographic or ultrasound revealed hypertrophied pyloric muscle.
4. Narrow pyloric sphincter revealed in barium swallow. (Positive string sign).

Medical management

Immediate treatment requires correction of fluid loss, electrolytes, and acid-base

imbalance. Once intravenous access is obtained an initial fluid bolus (20 mL/kg) of
crystalloids should be infused immediately if the infant is dehydrated.The infant’s fluid
status should be continuously reassessed with special attention to acid-base status and
urine output.

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Surgical management

The definitive treatment of pyloric stenosis is with surgical pyloromyotomy

known as Ramstedt’s procedure (dividing the muscle of the pylorus to open up the gastric
outlet). This is a relatively straightforward surgery that can possibly be done through a
single incision (usually 3-4 cm long) or laparoscopically (through several tiny incisions),
depending on the surgeon’s experience and preference.

Hiatus Hernia:

Is a protrusion of the stomach through the esophageal hiatus in the diaphragm (the hiatus
is abnormally wide) forceful vomiting begins between one week and one month of age
and may contain blood. The vomiting causes anemia, weight loss, dehydration and
malnutrition if unchecked.

Signs and Symptoms

 Chest pain
 Heartburn, worse when bending over or lying down
 Swallowing difficulty

A hiatal hernia by itself rarely causes symptoms. Pain and discomfort are usually
due to the reflux of gastric acid, air, or bile.

Management

Hiatus hernia surgery can be performed as a laparoscopic, or “minimally invasive” or

“keyhole” procedure.

ANOMALIES OF THE INTESTINE:

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1. Imperforate Anus: There are four types of imperforate anus: stenosis, membranous
(imperforate anal membrane), agenesis (rectum has a blind end it may be high or low)
the anal dimple may be present at the site where the anus should be, atrelic. A fistula
between the rectum and the genitourinary tract may be present. The infant can’t pass
stool and signs of intestinal obstruction result, mainly abdominal distension.

Management

Colostomy is performed after 24 hours (or immediately if one of the above

diagnoses is made based on either physical examination findings or meconium in the
urine).

2. Omphalocele: It is the protrusion of the abdominal cavity into the base of the
umbilical cord or through a defect and other abdominal organs. The mass is usually
covered with a transparent membrane.

Management

Omphalocele repair is surgery to repair a birth defect in the wall of the belly
(abdomen) in which all or parts of the small intestine, liver and large intestine stick out of
the belly button (navel) in a thin sac.

3. Intestinal Atresia: Is an interruption in the continuity of the intestine which may take
the form of a septum in the lumen of the intestine, stenosis, complete atresia of
varying lengths, separated blind ends of bowel, or multiple atresias. It may occur at
any point in either small or large intestine.

Management

Gastrectomy

4.Hirschsprung Disease (Congenital Aganglionic Megacolon)

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 It is congenital absence of ganglionic nerve fiber in the affected part of the gut
leads to mechanical obstruction caused by inadequate motility in part of the intestine.

Pathophysiology:

Congenital Aganglionic Megacolon describes the primary defect, which is he

absence of autonomic parasympathetic ganglionic cells in the submucosal and myenteric
plexuses in one or more segments of the colon.

Lack of innervation produces the functional defect:

 Absence of peristalsis, which cause.

 Accumulation of intestinal contents and bowel distention proximal to the defect.
 Failure of the internal anal sphincter to relax contributes to clinical manifestations
of obstruction because it prevents evacuation of solids and gas.

Intestinal distention and ischemia may occur as a result of distension of the bowel wall.

Clinical Manifestations:

Vary according to:

1. Age when symptoms are recognized.

2. The length of the affected bowel.
3. And the occurrence of complication i.e. entrocolitis.

In the newborn:

The primary signs and symptoms are:

 Failure to pass meconium within 24 – 48 hrs after birth.

 Food refusal.
 Vomiting.
 Abdominal distention.

During infancy:

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  Inadequate weight gain.
 Constipation.
 Abdominal distention.
 Explosive watery diarrhea.
 Episodes of diarrhea and vomiting.
 Bloody diarrhea, fever and severe lethargy are ominous signs because they signify
the presence of enterocolitis.
Clinical features
Hirschsprung’s disease is diagnosed shortly after birth, although it may
develop well into adulthood, because of the presence of megacolon, or because the
baby fails to pass the first stool (meconium) within 48 hours. Other symptoms
include: green or brown vomit, explosive stools after a doctor inserts a finger into
the rectum, swelling of the abdomen, lots of gas and bloody diarrhea.
Diagnosis
Definitive diagnosis is made by suction biopsy of the distally narrowed
segment. A histologic examination of the tissue would show a lack of ganglionic
nerve cells. Diagnostic techniques involve anorectal manometry, barium enema,
and rectal biopsy. The suction rectal biopsy is considered the current international
gold standard in the diagnosis of Hirschsprung’s disease.
Radiologic findings may also assist with diagnosis. Cineanography (fluoroscopy
of contrast medium passing anorectal region) assists in determining the level of the
affected intestines.
Management
Management is essentially surgical; the role of medical management is restricted
to stabilize the general condition of the child. Initially, a colostomy in the ganglionic
bowel is performed to relieve the obstruction and allow the dilated hypertrophied
proximal bowel to return to normal. Subsequently, definitive surgery is performed. This

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consists of excision of the aganglionic segment with a “pull through” procedure enabling
an anastomosis to be performed between the ganglionic colon and the anus.

The most frequently performed surgeries are those described by Swenson, Duhamel,
Soave and Boley. Through the long-term bowel control is excellent, soiling and
constipation may occur in initial period. Use of laparoscopes in neonatal colectomy has
helped in rapid recovery and less adhesions.

5,Intussusception: It is an acquired from of intestinal obstruction. It is the invagination

of a portion of the bowel into the portion immediate distal to it; thus the blood supply is
out off and if the condition continuous, the bowel will become gangrenous. Death may
result if the condition is not recognized and corrected. Sometimes a simple reduction
occurs.

Management
Surgical correction of an intussusception is done with the patient under
general anesthesia. The surgeon usually enters the abdominal cavity by way of a
laparotomy, a large incision made through the incision for closer examination. The
surgeon first attempts to reduce the intussusception by “milking” or applying gentle
pressure to ease the intussusceptum out of the intussuscipiens; this technique is called
manual reduction. If manual reduction is not successful, the surgeon may perform a
resection of the intussusception. Respect means to remove part or all of a tissue or
structure; resection of the intussusception, therefore, involves the removal of the area of
the intestine that has prolapsed. The two cut ends of the intestine may then be
reconnected with sutures or surgical staples; this reconnection is called an end-to-end
anastomosis.

D.CONGENITAL ABNORMALITIES IN RENAL SYSTEM

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 Congenital abnormalities of kidney and urinary tract are common. Some are of no
clinical significance; others may be symptomatic, present problems in management and
account for about 25% cases of CKD in children.

1.Renal Agenesis, Hypoplasia

The presence of bilateral renal agenesis or hypoplasia is not compatible
with life. Neonates show low set ears, flat nose, prominent epicanthic folds and small
chin (Potter facies). Owing to lack of fetal urine production, there are obgohydranios and
limb anomalies. Pulmonary hypoplasia is the usual cause of mortality. Unilateral agenesis
is not uncommon and usually asymptomatic; the contralateral kidney shows hypertrophy.
2.Renal Ectopia,Renal Fusion
An ectopic kidney may lie in the pelvis or the iliac fossa. It may be
structurally normal or hypoplastic. The patient may be asymptomatic, or have abdominal
discomfort or dysuria. If dentical poles of both kidneys are fused, horseshoe kidney
results. Patients with horseshoe kidney show veslcouretenc refluxing 30%.
3.Renal Dysplasia, Multicystic Kidney
Renal dysplasia implies abnormal development of renal parenchyma. Primitive
ducts surrounded by connective kidney is a large, dysplastic, non-functioning kidney
contammgcysts of varying sizes. No intervention is usually necessary since it shows
progressive involution. The contralateral kidney and ureter may show structural
anomalies or vesicoureteric reflux, which should be excluded by appropriate imaging
Bilateral total renal dysplasia is fatal in the neonatal period.

4.Obstructive Uropathy
Obstructive anomalies of the urinary tract are an important cause of
irreversible renal damage in childhood. The common lesions include posterior urethral
valves and pelviureteric junction obstruction. Chronic obstruction may result in distal
renal tubular dysfunction with impaired urinary concentration and acidification, and

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affect vitamin – D metabolism. Thus, polyuria, polydipsia, failure to thrive, refractory
rickets and systemic acidosis may be present.

E.URINARY SYSTEM:
Epispadias: Mieatual opening located on dorsal or superior surface of the penis.

Signs and symptoms

 Abnormal opening from the bladder neck to the area above the normal urethra
opening.
 Backward flow of urine into the kidney (reflux nephropathy)
 Urinary incontinence
 Urinary tract infections
 Widened pubic bone

Diagnostic Test may include:

 Blood test
 Intravenous pyelogram (IVO), a special x-ray of the kidneys, bladder, and
ureters
 MRI and CT scans, depending on the condition
 Pelvic x-ray
 Ultrasound of the urinary system and genitals

Management

The goals of surgical procedure are (1) correction of the curvature, (2) reconstruction of
missing portion of urethra, (3) restoration of the normal aspect of the external genitalaia,
and (4) reconstruction of the anterior wall of the bladder when necessary. Surgery differs
according to the complexity of the malformation.

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Cantwell-Ransley repair: In ransley’s technique, the incision begins in the midline above
the urethral opening and is extended far enough upwards to provide good access to the
proximal corpora for mobilization. Figure 1 It continues down on each side of the
urethral plate (backward by the corpus spongiosum) and sweeps ventrally around the
coronal sulcus separating the prepuce and ventral skin from the corpora. Once the ventral
aspects of the corpora are fully exposed. The fascia covering each corpus is vertically
opened all along the ventral aspect of each corpus.

Mitchell’s Technique: It is based on a complete disassembly of the penile structures

which allows a tubularization and ventralization of the entire urethra, and a more
complete release of the corporal rotation.

Hypospadias: Urethral opening located behind glands penis or anywhere along ventral
(lower) surface of penile shaft. The treatment of hypospadias is always surgical. Initially
when the child is born and hypospadias is identified, it is important to delay any thoughts
of circumcision until seen by a urologist. This is because the foreskin can provide
essential additional skin needed to reconstruct the urethra.

Phimosis: Narrowing or stenosis of preputial opening of foreskin.

Severe cases: circumcision or vertical division and trans verse, suturing of foreskin.

Hydrocele: Fluid in scrotum.

Therapeutic management is surgical repair indicated if spontaneous resolution not

accomplished in 1 year.

Inguinal Hernia: Protrusion of abdominal contents through inguinal canal into the
scrotum.

Therapeutic management includes: Detected as painless inguinal swelling of variable

size surgical closure of inguinal defect.

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Polycystic Kidney: The infant has enlarged kidneys filled with cysts at birth. If the
condition is bilateral the infant will not pass urine but if it is unilateral the condition may
be missed until later in life.

Signs and symptoms

 Abdominal pain
 Detectable abdominal mass
 Pale color to skin
 Bruise easily
 High blood pressure
 Kidney stones
 Aneurysms (bulging of the walls of blood vessels) in the brain
 Diverticulosis (pouches in the intestines)
 Urinary tract infections
 Hematuria (blood in the urine)
 Liver and pancreatic cysts
 Abnormal heart valves

Medical management

 Pain medication
 Surgery to shrink cysts and relieve pain
 Treatment for high blood pressure
 Treatment for urinary tract infections
 Dialysis
 Kidney transplantation

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 F.Skeletal Defects Affecting the Nervous System:

Spina Bifida: Is a defective closure of the vertebral column. Whether the defect will
have devastating consequences for the neonates depends entirely on the site and the
extent of anomaly. It is more common in the lumbo sacral region. It has varying degree of
tissue protrusion through the bony cleft.

Spina Bifida Occulta: Usually the 5th lumber ad 1st sacral vertebrae are affected
with no protrusion of interspinal contents the spinal cord and its cover the skin over the
defect may reveal a dimple, small fatty mass, or a tuft of hair. The defect is only in the
vertebra, the spinal cord and meneiges is normal and not visible.

Meningomyelocele: Is a more serious defect in which the spinal cord and/or nerve
roots as well as meningoel covering protrude through the spina bifida. The degree and
extent of neurogenic defect depend on the level of the defect. The higher the level the
greater the defect. If in the lumbosacral area, the usual of the defect is associated with a
flaccid paralysis of the lower extremities, absent sensation to the level of the lesion, and
loss of bowel and bladder control, dilate, and the cranial suture begin to separate.

 Orthopedic Anomalies:

Talips Equinovarus (club foot)

The abnormally is probably related to in-utero posture because it is more

common in first born infants and pregnancies associated with oligohydramnios. It is
characterized by pkantar flexion (equinus) and inversion (varus) of the ankle and
adduction of forefoot. The dorsiflexion of the foot is limited and unlike normal babies
the dorsum of the foot cannot be made to touch the front of the shin. Skin may be
puckered or grooved on the medial side of the foot. In bilateral cases, spine should be
examined for meningocele and any tuft of hair to suggest dermoid or
diastematomyelia. The other joints should be examined to exclude arthrogryposis

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multiplex. In mild cases, manipulations (eversion and dorsiflexion) alone are enough
to correct the anomaly. In established or ankylosed cases, immediate advice of
orthopedic surgeon should be sought for early manipulation and plaster applications.
The corrective casts should be applied as soon after the birth as possible.

The adduction and varus deformities are corrected initially followed by

correction of equinus anomaly. The plaster or fiberglass cast is changed and foot is
manipulated weekly for the first two months, then every two weeks until full
correction has been achieved. When planter flexion is not completely resolved by
physical measures, tenotomy or lengthening of tendoachillis is advocated. The parents
should be prepared for a long period of treatment and reassured that with early and
through management, there is a good chance that foot would become entirely normal
and child would be able to walk without any limp.

Calcaneovalgus deformity

The deformity of foot is like a mirror image of club foot and occurs due to
in-utero cramped up position. The ankle is dorsiflexed and foot is abducted, everted or
pronated. The dorsum of the foot is maintained close to the shin. Most cases can be
managed by physiotherapy by passive plantar flexion and inversion of foot. When
foot cannot be plantar flexed to neutral position and there is fixed or rigid
calcaneovalgus deformity, the condition is managed by graded application of plaster
casts over 6-8 weeks as in the case of club feet.

Congenital Dislocation of Hips (CDH)

Its incidence varies from 10 to 20 per 1,000 live born infants. The
dislocation is bilateral in about 30 to 40 percent of cases. The exact etiology is
unknown. The condition is more common among first born, post term or large infants
and female babies delivered following breech presentation. The prolonged gestation is
associated with increase in the maternal hormones which may account for the laxity

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 of the hip joint. The increased frequency of hip abnormalities in the family members
of the affected children is suggestive of genetic predisposition of CDH.

SUMMARY

So far we discussed An anomaly is a structural defect present at birth. Some defects

may be compatible with life but need treatment that could be delayed. Others are
incompatible with life and must be repaired immediately.Anomalies in various system
in the body and its management.

CONCLUSION

Some defects may be compatible with life but need treatment that could be delayed.
Others are incompatible with life and must be repaired immediately. Several factors are
known to produces malformation of the developing fetus. These are environmental
factors like use of drugs, radiation, viruses, genetic traits in one or both parents, and as
interaction of the environmental and hereditary influences. Nurses are mainly concerned
with the environmental influences since they are controllable in many instances so that
birth defects can be prevented.

BIBLIOGRAPHY

 Dorothy.R.Marlow text book of pediatric nursing,(1988)first edition,published by

saunders
 Wongs text book of pediatric nursing(2009)first edition,published by elseiver
 OP ghai essential pediatrics (1988)first edition,published by CBS publishers

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